CHRNA1 cholinergic receptor nicotinic alpha 1 subunit

Information
Symbol
CHRNA1
Type
protein-coding
Description
cholinergic receptor nicotinic alpha 1 subunit
Entrez Gene ID
1134
Genome
hg19
Position
chr2:175,612,388-175,629,189
Genome
hg38
Position
chr2:174,747,660-174,764,461
MIM
100690 OMIM
HGNC
HGNC:1955 HGNC
Ensembl
ENSG00000138435 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 52
Likely pathogenic 0 32
Benign 0 90
Likely benign 0 302
Conflicting classifications of pathogenicity 0 68
Uncertain significance 0 440
Ranking
ClinVar
0
0
154
708
26
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 ACHRA
SYNONYM ACHRD
SYNONYM CHRNA
SYNONYM CMS1A
SYNONYM CMS1B
SYNONYM CMS2A
SYNONYM FCCMS
SYNONYM SCCMS
MIM 100690 OMIM
HGNC HGNC:1955 HGNC
Ensembl ENSG00000138435 Ensembl
AllianceGenome HGNC:1955
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261007.9 hg38 chr2 174,747,660 174,764,461 16,802
ENST00000409542.5 hg38 chr2 174,747,810 174,764,412 16,603
ENST00000348749.9 hg38 chr2 174,747,592 174,764,472 16,881
ENST00000409219.5 hg38 chr2 174,747,810 174,764,412 16,603
ENST00000672640.1 hg38 chr2 174,747,592 174,764,472 16,881
ENST00000636168.2 hg38 chr2 174,747,817 174,787,935 40,119
ENST00000409323.1 hg38 chr2 174,752,755 174,764,453 11,699
ENST00000348749.9 hg19 chr2 175,612,320 175,629,200 16,881
ENST00000672640.1 hg19 chr2 175,612,320 175,629,200 16,881
ENST00000261007.9 hg19 chr2 175,612,388 175,629,189 16,802
ENST00000409219.5 hg19 chr2 175,612,538 175,629,140 16,603
ENST00000409542.5 hg19 chr2 175,612,538 175,629,140 16,603
ENST00000636168.2 hg19 chr2 175,612,545 175,652,663 40,119
ENST00000409323.1 hg19 chr2 175,617,483 175,629,181 11,699
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