Canonical Allele Identifier: CA1100601184

Gene:

Linked Data

• dbSNP Id: rs553044876
• gnomAD v3: 7-41782357-C-A
• gnomAD v4: 7-41782357-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41782357C>A , CM000669.2:g.41782357C>A	GRCh38
NC_000007.13:g.41821955C>A , CM000669.1:g.41821955C>A	GRCh37
NC_000007.12:g.41788480C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745185.1:n.964+46643C>A
XR_001745186.1:n.954+46653C>A