Allele Registry

Canonical Allele Identifier: CA35383309

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6435725 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.195562293T>C

GRCh37 chr1:g.195531423T>C

Linked Data - Sequence & Population

gnomAD v2:

1:195531423 T / C

gnomAD v3:

1:195562293 T / C

gnomAD v4:

chr1-195562293-T-C

Joint Max Group AF 0.41243261 (AMR)

Genomes Max Group AF 0.41243261 (AMR)

Linked Data - NCBI & NCI

dbSNP:

1890645

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.195562293T>C , CM000663.2:g.195562293T>C	GRCh38
NC_000001.10:g.195531423T>C , CM000663.1:g.195531423T>C	GRCh37
NC_000001.9:g.193798046T>C	NCBI36

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