Allele Registry

Canonical Allele Identifier: CA15427754

Gene:

Linked Data - Expert Curation

COSMIC:

COSN14979032 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.86756774A>G

GRCh37 chr6:g.87466492A>G

Linked Data - Sequence & Population

gnomAD v2:

6:87466492 A / G

gnomAD v3:

6:86756774 A / G

gnomAD v4:

chr6-86756774-A-G

Joint Max Group AF 0.68702364 (AFR)

Genomes Max Group AF 0.68702364 (AFR)

Linked Data - NCBI & NCI

dbSNP:

493187

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.86756774A>G , CM000668.2:g.86756774A>G	GRCh38
NC_000006.11:g.87466492A>G , CM000668.1:g.87466492A>G	GRCh37
NC_000006.10:g.87523211A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_942749.1:n.531-26531T>C
XR_942750.1:n.511-26531T>C

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