Canonical Allele Identifier: CA846958850

Gene:

Linked Data

• dbSNP Id: rs1169788087
• gnomAD v3: 8-125478300-C-T
• gnomAD v4: 8-125478300-C-T
• MyVariant Identifiers: chr8:g.126490542C>T (hg19) ; chr8:g.125478300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478300C>T , CM000670.2:g.125478300C>T	GRCh38
NC_000008.10:g.126490542C>T , CM000670.1:g.126490542C>T	GRCh37
NC_000008.9:g.126559724C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+4986C>T