Canonical Allele Identifier: CA673239430

Gene:

Linked Data

• dbSNP Id: rs1288945596
• gnomAD v3: 11-128455559-G-C
• gnomAD v4: 11-128455559-G-C
• MyVariant Identifiers: chr11:g.128325454G>C (hg19) ; chr11:g.128455559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128455559G>C , CM000673.2:g.128455559G>C	GRCh38
NC_000011.9:g.128325454G>C , CM000673.1:g.128325454G>C	GRCh37
NC_000011.8:g.127830664G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948164.1:n.4279G>C
XR_948165.1:n.3467+812G>C