Canonical Allele Identifier: CA943450451

Gene:

Linked Data

• dbSNP Id: rs1861797687
• gnomAD v3: 11-128455587-G-A
• gnomAD v4: 11-128455587-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128455587G>A , CM000673.2:g.128455587G>A	GRCh38
NC_000011.9:g.128325482G>A , CM000673.1:g.128325482G>A	GRCh37
NC_000011.8:g.127830692G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948164.1:n.4307G>A
XR_948165.1:n.3467+840G>A