Canonical Allele Identifier: CA261374895

Gene:

Linked Data

• dbSNP Id: rs962343649
• gnomAD v3: 14-52417713-C-A
• gnomAD v4: 14-52417713-C-A
• MyVariant Identifiers: chr14:g.52884431C>A (hg19) ; chr14:g.52417713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417713C>A , CM000676.2:g.52417713C>A	GRCh38
NC_000014.8:g.52884431C>A , CM000676.1:g.52884431C>A	GRCh37
NC_000014.7:g.51954181C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943866.1:n.2990G>T