Canonical Allele Identifier: CA265581632

Gene:

Linked Data

• dbSNP Id: rs560343940
• gnomAD v3: 14-92314733-C-A
• gnomAD v4: 14-92314733-C-A
• MyVariant Identifiers: chr14:g.92781077C>A (hg19) ; chr14:g.92314733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92314733C>A , CM000676.2:g.92314733C>A	GRCh38
NC_000014.8:g.92781077C>A , CM000676.1:g.92781077C>A	GRCh37
NC_000014.7:g.91850830C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944153.1:n.132-513C>A