Canonical Allele Identifier: CA260835517

Gene:

Linked Data

• dbSNP Id: rs962463357
• gnomAD v2: 14-51323655-G-A
• gnomAD v3: 14-50856937-G-A
• gnomAD v4: 14-50856937-G-A
• MyVariant Identifiers: chr14:g.51323655G>A (hg19) ; chr14:g.50856937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856937G>A , CM000676.2:g.50856937G>A	GRCh38
NC_000014.8:g.51323655G>A , CM000676.1:g.51323655G>A	GRCh37
NC_000014.7:g.50393405G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943848.1:n.282+1161C>T
XR_943848.2:n.643+1161C>T