Canonical Allele Identifier: CA185510882

Gene:

Linked Data

• dbSNP Id: rs982510649
• gnomAD v3: 8-125478476-A-G
• gnomAD v4: 8-125478476-A-G
• MyVariant Identifiers: chr8:g.126490718A>G (hg19) ; chr8:g.125478476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478476A>G , CM000670.2:g.125478476A>G	GRCh38
NC_000008.10:g.126490718A>G , CM000670.1:g.126490718A>G	GRCh37
NC_000008.9:g.126559900A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5162A>G