Allele Registry

Canonical Allele Identifier: CA11932763

Gene:

Linked Data - Expert Curation

COSMIC:

COSN14788107 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.73255307A>G

GRCh37 chr5:g.72551134A>G

Linked Data - Sequence & Population

gnomAD v2:

5:72551134 A / G

gnomAD v3:

5:73255307 A / G

gnomAD v4:

chr5-73255307-A-G

Joint Max Group AF 0.52192643 (AFR)

Genomes Max Group AF 0.52192643 (AFR)

Linked Data - NCBI & NCI

dbSNP:

7702331

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.73255307A>G , CM000667.2:g.73255307A>G	GRCh38
NC_000005.9:g.72551134A>G , CM000667.1:g.72551134A>G	GRCh37
NC_000005.8:g.72586890A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948470.1:n.316-8651T>C
XR_948470.2:n.286-8651T>C

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