Allele Registry

Canonical Allele Identifier: CA14397214

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6652331 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.15289739A>G

GRCh37 chr17:g.15193056A>G

Linked Data - Sequence & Population

gnomAD v2:

17:15193056 A / G

gnomAD v3:

17:15289739 A / G

gnomAD v4:

chr17-15289739-A-G

Joint Max Group AF 0.85973585 (AFR)

Genomes Max Group AF 0.85973585 (AFR)

Linked Data - NCBI & NCI

dbSNP:

1380181

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15289739A>G , CM000679.2:g.15289739A>G	GRCh38
NC_000017.10:g.15193056A>G , CM000679.1:g.15193056A>G	GRCh37
NC_000017.9:g.15133781A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934246.1:n.209+180A>G
XR_934247.1:n.209+180A>G
XR_934248.1:n.25+441T>C

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