Canonical Allele Identifier: CA847111520

Gene:

Linked Data

• dbSNP Id: rs1279668429
• gnomAD v3: 8-126999349-G-C
• gnomAD v4: 8-126999349-G-C
• MyVariant Identifiers: chr8:g.128011594G>C (hg19) ; chr8:g.126999349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999349G>C , CM000670.2:g.126999349G>C	GRCh38
NC_000008.10:g.128011594G>C , CM000670.1:g.128011594G>C	GRCh37
NC_000008.9:g.128080776G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7206G>C