Canonical Allele Identifier: CA583207373

Gene:

Linked Data

• dbSNP Id: rs9298326
• gnomAD v2: 8-80103395-G-T
• MyVariant Identifiers: chr8:g.80103395G>T (hg19) ; chr8:g.79191160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191160G>T , CM000670.2:g.79191160G>T	GRCh38
NC_000008.10:g.80103395G>T , CM000670.1:g.80103395G>T	GRCh37
NC_000008.9:g.80265950G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+789G>T