Canonical Allele Identifier: CA185510915

Gene:

Linked Data

• dbSNP Id: rs116424518
• gnomAD v2: 8-126491040-G-A
• gnomAD v3: 8-125478798-G-A
• gnomAD v4: 8-125478798-G-A
• MyVariant Identifiers: chr8:g.126491040G>A (hg19) ; chr8:g.125478798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478798G>A , CM000670.2:g.125478798G>A	GRCh38
NC_000008.10:g.126491040G>A , CM000670.1:g.126491040G>A	GRCh37
NC_000008.9:g.126560222G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5484G>A