Canonical Allele Identifier: CA847111441

Gene:

Linked Data

• dbSNP Id: rs1446753913
• gnomAD v3: 8-126999209-C-T
• gnomAD v4: 8-126999209-C-T
• MyVariant Identifiers: chr8:g.128011454C>T (hg19) ; chr8:g.126999209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999209C>T , CM000670.2:g.126999209C>T	GRCh38
NC_000008.10:g.128011454C>T , CM000670.1:g.128011454C>T	GRCh37
NC_000008.9:g.128080636C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7346C>T