Canonical Allele Identifier: CA580743502

Gene:

Linked Data

• dbSNP Id: rs1158175727
• gnomAD v2: 8-20592559-G-A
• MyVariant Identifiers: chr8:g.20592559G>A (hg19) ; chr8:g.20735048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20735048G>A , CM000670.2:g.20735048G>A	GRCh38
NC_000008.10:g.20592559G>A , CM000670.1:g.20592559G>A	GRCh37
NC_000008.9:g.20636839G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55398G>A