ABCB4 ATP binding cassette subfamily B member 4

Information
Symbol
ABCB4
Type
protein-coding
Description
ATP binding cassette subfamily B member 4
Entrez Gene ID
5244
Genome
hg19
Position
chr7:87,031,365-87,105,055
Genome
hg38
Position
chr7:87,402,049-87,475,739
MIM
171060 OMIM
HGNC
HGNC:45 HGNC
Ensembl
ENSG00000005471 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 166
Likely pathogenic 0 126
Benign 0 188
Likely benign 0 696
Conflicting classifications of pathogenicity 0 150
Uncertain significance 0 498
Ranking
ClinVar
0
0
264
1,320
36
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ABC21
SYNONYM GBD1
SYNONYM ICP3
SYNONYM MDR2
SYNONYM MDR2/3
SYNONYM MDR3
SYNONYM PFIC-3
SYNONYM PGY3
MIM 171060 OMIM
HGNC HGNC:45 HGNC
Ensembl ENSG00000005471 Ensembl
AllianceGenome HGNC:45
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000453593.5 hg38 chr7 87,402,096 87,475,465 73,370
ENST00000649586.2 hg38 chr7 87,401,696 87,475,680 73,985
ENST00000359206.8 hg38 chr7 87,402,059 87,475,848 73,790
ENST00000265723.8 hg38 chr7 87,402,049 87,475,739 73,691
ENST00000649586.2 hg19 chr7 87,031,012 87,104,996 73,985
ENST00000265723.8 hg19 chr7 87,031,365 87,105,055 73,691
ENST00000359206.8 hg19 chr7 87,031,375 87,105,164 73,790
ENST00000453593.5 hg19 chr7 87,031,412 87,104,781 73,370
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