Canonical Allele Identifier: CA847111477

Gene:

Linked Data

• dbSNP Id: rs1158971910
• gnomAD v3: 8-126999252-C-T
• gnomAD v4: 8-126999252-C-T
• MyVariant Identifiers: chr8:g.128011497C>T (hg19) ; chr8:g.126999252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999252C>T , CM000670.2:g.126999252C>T	GRCh38
NC_000008.10:g.128011497C>T , CM000670.1:g.128011497C>T	GRCh37
NC_000008.9:g.128080679C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7303C>T