Canonical Allele Identifier: CA846959098

Gene:

Linked Data

• dbSNP Id: rs1286860143
• gnomAD v3: 8-125478511-G-T
• gnomAD v4: 8-125478511-G-T
• MyVariant Identifiers: chr8:g.126490753G>T (hg19) ; chr8:g.125478511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478511G>T , CM000670.2:g.125478511G>T	GRCh38
NC_000008.10:g.126490753G>T , CM000670.1:g.126490753G>T	GRCh37
NC_000008.9:g.126559935G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5197G>T