Canonical Allele Identifier: CA173689914

Gene:

Linked Data

• dbSNP Id: rs996659087
• gnomAD v2: 8-20592562-G-A
• gnomAD v3: 8-20735051-G-A
• gnomAD v4: 8-20735051-G-A
• MyVariant Identifiers: chr8:g.20592562G>A (hg19) ; chr8:g.20735051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20735051G>A , CM000670.2:g.20735051G>A	GRCh38
NC_000008.10:g.20592562G>A , CM000670.1:g.20592562G>A	GRCh37
NC_000008.9:g.20636842G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55395G>A