Allele Registry

Canonical Allele Identifier: CA36084836

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6436509 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.197812068C>T

GRCh37 chr1:g.197781198C>T

Linked Data - Sequence & Population

gnomAD v2:

1:197781198 C / T

gnomAD v3:

1:197812068 C / T

gnomAD v4:

chr1-197812068-C-T

Joint Max Group AF 0.26931742 (MID)

Genomes Max Group AF 0.21980911 (SAS)

Linked Data - NCBI & NCI

dbSNP:

12134279

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197812068C>T , CM000663.2:g.197812068C>T	GRCh38
NC_000001.10:g.197781198C>T , CM000663.1:g.197781198C>T	GRCh37
NC_000001.9:g.196047821C>T	NCBI36

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