ALB albumin

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: ALB
Type: protein-coding
Description: albumin
Entrez Gene ID: 213
Genome: hg19
Position: chr4:74,270,004-74,287,199
Genome: hg38
Position: chr4:73,404,287-73,421,482
MIM: 103600 OMIM
HGNC: HGNC:399 HGNC
Ensembl: ENSG00000163631 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	34
Likely pathogenic	0	2
Benign	0	46
Likely benign	0	38
Conflicting classifications of pathogenicity	0	8
no classification for the single variant	0	2
not provided	0	28
other	0	70
Uncertain significance	34	114

Ranking

	ClinVar
	0
	0
	40
	158
	102

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	FDAHT
SYNONYM	HSA
SYNONYM	PRO0883
SYNONYM	PRO0903
SYNONYM	PRO1341
MIM	103600 OMIM
HGNC	HGNC:399 HGNC
Ensembl	ENSG00000163631 Ensembl
AllianceGenome	HGNC:399

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000509063.5	hg38	chr4	73,404,304	73,421,193	16,890
ENST00000415165.6	hg38	chr4	73,404,287	73,421,256	16,970
ENST00000401494.7	hg38	chr4	73,404,308	73,421,222	16,915
ENST00000503124.5	hg38	chr4	73,404,301	73,421,222	16,922
ENST00000295897.9	hg38	chr4	73,404,287	73,421,482	17,196
ENST00000415165.6	hg19	chr4	74,270,004	74,286,973	16,970
ENST00000295897.9	hg19	chr4	74,270,004	74,287,199	17,196
ENST00000401494.7	hg19	chr4	74,270,025	74,286,939	16,915
ENST00000503124.5	hg19	chr4	74,270,018	74,286,939	16,922
ENST00000509063.5	hg19	chr4	74,270,021	74,286,910	16,890

Key	Value
strand	+
start	74,269,971
Gene Symbol	ALB
Entrez GeneId	213
Chr Band	4q13.3
end	74,287,128
chr	chr4

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