Canonical Allele Identifier: CA706741090

Gene:

Linked Data

• dbSNP Id: rs1354530598
• gnomAD v3: 14-52417646-T-G
• gnomAD v4: 14-52417646-T-G
• MyVariant Identifiers: chr14:g.52884364T>G (hg19) ; chr14:g.52417646T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417646T>G , CM000676.2:g.52417646T>G	GRCh38
NC_000014.8:g.52884364T>G , CM000676.1:g.52884364T>G	GRCh37
NC_000014.7:g.51954114T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3057A>C