Allele Registry

Canonical Allele Identifier: CA10586794

Gene: CHRNA1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.174764872T>C

GRCh37 chr2:g.175629600T>C

Linked Data - Sequence & Population

gnomAD v2:

2:175629600 T / C

gnomAD v3:

2:174764872 T / C

gnomAD v4:

chr2-174764872-T-C

Joint Max Group AF 0.23745689 (SAS)

Genomes Max Group AF 0.23745689 (SAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000249329

RCV001510940

RCV001668453

ClinVar Variation:

257230

dbSNP:

16862847

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174764872T>C , CM000664.2:g.174764872T>C	GRCh38
NC_000002.11:g.175629600T>C , CM000664.1:g.175629600T>C	GRCh37
NC_000002.10:g.175337846T>C	NCBI36
NG_008172.1:g.4601A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.-446-5239A>G	ENSP00000490338.2:n.-446-5239A>G

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