Canonical Allele Identifier: CA1100601220

Gene:

Linked Data

• dbSNP Id: rs1784483944
• gnomAD v3: 7-41782388-C-G
• gnomAD v4: 7-41782388-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41782388C>G , CM000669.2:g.41782388C>G	GRCh38
NC_000007.13:g.41821986C>G , CM000669.1:g.41821986C>G	GRCh37
NC_000007.12:g.41788511C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745185.1:n.964+46674C>G
XR_001745186.1:n.954+46684C>G