Canonical Allele Identifier: CA846955618

Gene:

Linked Data

• dbSNP Id: rs1406312507
• gnomAD v3: 8-125474074-A-C
• gnomAD v4: 8-125474074-A-C
• MyVariant Identifiers: chr8:g.126486316A>C (hg19) ; chr8:g.125474074A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474074A>C , CM000670.2:g.125474074A>C	GRCh38
NC_000008.10:g.126486316A>C , CM000670.1:g.126486316A>C	GRCh37
NC_000008.9:g.126555498A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+760A>C