Canonical Allele Identifier: CA1118845359

Gene:

Linked Data

• dbSNP Id: rs1812784319
• gnomAD v3: 8-125478756-C-A
• gnomAD v4: 8-125478756-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478756C>A , CM000670.2:g.125478756C>A	GRCh38
NC_000008.10:g.126490998C>A , CM000670.1:g.126490998C>A	GRCh37
NC_000008.9:g.126560180C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5442C>A