Allele Registry

Canonical Allele Identifier: CA13646562

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.47963231A>C

GRCh37 chr12:g.48357014A>C

Linked Data - Sequence & Population

gnomAD v2:

12:48357014 A / C

gnomAD v3:

12:47963231 A / C

gnomAD v4:

chr12-47963231-A-C

Joint Max Group AF 0.95646777 (EAS)

Genomes Max Group AF 0.95646777 (EAS)

Exomes Max Group AF 0.391268 (NFE)

Linked Data - NCBI & NCI

dbSNP:

4760674

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47963231A>C , CM000674.2:g.47963231A>C	GRCh38
NC_000012.11:g.48357014A>C , CM000674.1:g.48357014A>C	GRCh37
NC_000012.10:g.46643281A>C	NCBI36

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