Allele Registry

Canonical Allele Identifier: CA36486487

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6438845 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.205708998T>G

GRCh37 chr1:g.205678126T>G

Linked Data - Sequence & Population

gnomAD v2:

1:205678126 T / G

gnomAD v3:

1:205708998 T / G

gnomAD v4:

chr1-205708998-T-G

Joint Max Group AF 0.06810145 (NFE)

Genomes Max Group AF 0.06810145 (NFE)

Linked Data - NCBI & NCI

dbSNP:

16856186

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205708998T>G , CM000663.2:g.205708998T>G	GRCh38
NC_000001.10:g.205678126T>G , CM000663.1:g.205678126T>G	GRCh37
NC_000001.9:g.203944749T>G	NCBI36

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