Canonical Allele Identifier: CA157048371

Gene:

Linked Data

• dbSNP Id: rs10441105
• gnomAD v2: 7-41821956-C-A
• gnomAD v3: 7-41782358-C-A
• gnomAD v4: 7-41782358-C-A
• MyVariant Identifiers: chr7:g.41821956C>A (hg19) ; chr7:g.41782358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41782358C>A , CM000669.2:g.41782358C>A	GRCh38
NC_000007.13:g.41821956C>A , CM000669.1:g.41821956C>A	GRCh37
NC_000007.12:g.41788481C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745185.1:n.964+46644C>A
XR_001745186.1:n.954+46654C>A