Canonical Allele Identifier: CA1118845379

Gene:

Linked Data

• dbSNP Id: rs1812790648
• gnomAD v3: 8-125478829-G-A
• gnomAD v4: 8-125478829-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478829G>A , CM000670.2:g.125478829G>A	GRCh38
NC_000008.10:g.126491071G>A , CM000670.1:g.126491071G>A	GRCh37
NC_000008.9:g.126560253G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5515G>A