Canonical Allele Identifier: CA265876955

Gene:

Linked Data

• dbSNP Id: rs995222984
• gnomAD v4: 14-94612252-C-T
• MyVariant Identifiers: chr14:g.95078589C>T (hg19) ; chr14:g.94612252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94612252C>T , CM000676.2:g.94612252C>T	GRCh38
NC_000014.8:g.95078589C>T , CM000676.1:g.95078589C>T	GRCh37
NC_000014.7:g.94148342C>T	NCBI36
NG_012879.1:g.4876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553947.1:c.805-45C>T