Canonical Allele Identifier: CA181547508

Gene:

Linked Data

• dbSNP Id: rs1037564135
• gnomAD v3: 8-88535779-C-T
• gnomAD v4: 8-88535779-C-T
• MyVariant Identifiers: chr8:g.89548008C>T (hg19) ; chr8:g.88535779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88535779C>T , CM000670.2:g.88535779C>T	GRCh38
NC_000008.10:g.89548008C>T , CM000670.1:g.89548008C>T	GRCh37
NC_000008.9:g.89617124C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745651.2:n.1673+10738G>A
XR_001745653.2:n.286-6901C>T
XR_928383.3:n.1475+10738G>A