Canonical Allele Identifier: CA185510921

Gene:

Linked Data

• dbSNP Id: rs187959443
• gnomAD v2: 8-126491087-C-G
• gnomAD v3: 8-125478845-C-G
• gnomAD v4: 8-125478845-C-G
• MyVariant Identifiers: chr8:g.126491087C>G (hg19) ; chr8:g.125478845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478845C>G , CM000670.2:g.125478845C>G	GRCh38
NC_000008.10:g.126491087C>G , CM000670.1:g.126491087C>G	GRCh37
NC_000008.9:g.126560269C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5531C>G