Allele Registry

Canonical Allele Identifier: CA15136964

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6457166 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.4384479G>T

GRCh37 chr1:g.4444539G>T

Linked Data - Sequence & Population

gnomAD v2:

1:4444539 G / T

gnomAD v3:

1:4384479 G / T

gnomAD v4:

chr1-4384479-G-T

Joint Max Group AF 0.22167274 (NFE)

Genomes Max Group AF 0.22167274 (NFE)

Linked Data - NCBI & NCI

dbSNP:

239339

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.4384479G>T , CM000663.2:g.4384479G>T	GRCh38
NC_000001.10:g.4444539G>T , CM000663.1:g.4444539G>T	GRCh37
NC_000001.9:g.4344399G>T	NCBI36

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