Canonical Allele Identifier: CA13963099

Gene:

Linked Data

• dbSNP Id: rs194749
• gnomAD v2: 14-69273905-T-C
• gnomAD v3: 14-68807188-T-C
• gnomAD v4: 14-68807188-T-C
• MyVariant Identifiers: chr14:g.69273905T>C (hg19) ; chr14:g.68807188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68807188T>C , CM000676.2:g.68807188T>C	GRCh38
NC_000014.8:g.69273905T>C , CM000676.1:g.69273905T>C	GRCh37
NC_000014.7:g.68343658T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011537441.1:c.673-534A>G	XP_011535743.1:n.673-534A>G
XM_011537442.1:c.673-534A>G	XP_011535744.1:n.673-534A>G
XM_011537443.1:c.673-534A>G	XP_011535745.1:n.673-534A>G