Canonical Allele Identifier: CA12717752

Gene:

Linked Data

• dbSNP Id: rs11985951
• gnomAD v2: 8-20592509-T-C
• gnomAD v3: 8-20734998-T-C
• gnomAD v4: 8-20734998-T-C
• MyVariant Identifiers: chr8:g.20592509T>C (hg19) ; chr8:g.20734998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20734998T>C , CM000670.2:g.20734998T>C	GRCh38
NC_000008.10:g.20592509T>C , CM000670.1:g.20592509T>C	GRCh37
NC_000008.9:g.20636789T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55448T>C