Canonical Allele Identifier: CA846959184

Gene:

Linked Data

• dbSNP Id: rs1291676942
• gnomAD v3: 8-125478644-T-A
• gnomAD v4: 8-125478644-T-A
• MyVariant Identifiers: chr8:g.126490886T>A (hg19) ; chr8:g.125478644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478644T>A , CM000670.2:g.125478644T>A	GRCh38
NC_000008.10:g.126490886T>A , CM000670.1:g.126490886T>A	GRCh37
NC_000008.9:g.126560068T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5330T>A