Allele Registry

Canonical Allele Identifier: CA15084158

Gene:

Linked Data - Expert Curation

COSMIC:

COSN16208632 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.196972363T>C

GRCh37 chr1:g.196941493T>C

Linked Data - Sequence & Population

gnomAD v2:

1:196941493 T / C

gnomAD v3:

1:196972363 T / C

gnomAD v4:

chr1-196972363-T-C

Joint Max Group AF 0.86903746 (EAS)

Genomes Max Group AF 0.86903746 (EAS)

Linked Data - NCBI & NCI

dbSNP:

6667243

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196972363T>C , CM000663.2:g.196972363T>C	GRCh38
NC_000001.10:g.196941493T>C , CM000663.1:g.196941493T>C	GRCh37
NC_000001.9:g.195208116T>C	NCBI36

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