Canonical Allele Identifier: CA185510398

Gene:

Linked Data

• dbSNP Id: rs577537893
• gnomAD v3: 8-125474248-A-G
• MyVariant Identifiers: chr8:g.126486490A>G (hg19) ; chr8:g.125474248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474248A>G , CM000670.2:g.125474248A>G	GRCh38
NC_000008.10:g.126486490A>G , CM000670.1:g.126486490A>G	GRCh37
NC_000008.9:g.126555672A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+934A>G