Allele Registry

Canonical Allele Identifier: CA11957810

Gene:

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.04

Score -0.07

Score -0.01

Score -0.01

MyVariant.info:

GRCh38 chr5:g.1295234A>G

GRCh37 chr5:g.1295349A>G

Linked Data - Sequence & Population

gnomAD v2:

5:1295349 A / G

gnomAD v3:

5:1295234 A / G

gnomAD v4:

chr5-1295234-A-G

Joint Max Group AF 0.51170233 (SAS)

Genomes Max Group AF 0.51170233 (SAS)

Linked Data - NCBI & NCI

ClinVar Allele:

520856

ClinVar RCV:

RCV001653969

RCV001816613

RCV002530516

ClinVar Variation:

539240

dbSNP:

2853669

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1295234A>G , CM000667.2:g.1295234A>G	GRCh38
NC_000005.9:g.1295349A>G , CM000667.1:g.1295349A>G	GRCh37
NC_000005.8:g.1348349A>G	NCBI36
NG_009265.1:g.4814T>C , LRG_343:g.4814T>C

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