Canonical Allele Identifier: CA849667474

Gene:

Linked Data

• dbSNP Id: rs1429058993
• gnomAD v3: 8-20734918-G-A
• gnomAD v4: 8-20734918-G-A
• MyVariant Identifiers: chr8:g.20592429G>A (hg19) ; chr8:g.20734918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20734918G>A , CM000670.2:g.20734918G>A	GRCh38
NC_000008.10:g.20592429G>A , CM000670.1:g.20592429G>A	GRCh37
NC_000008.9:g.20636709G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55528G>A