Canonical Allele Identifier: CA157048378

Gene:

Linked Data

• dbSNP Id: rs541896977
• gnomAD v2: 7-41821976-A-C
• gnomAD v3: 7-41782378-A-C
• gnomAD v4: 7-41782378-A-C
• MyVariant Identifiers: chr7:g.41821976A>C (hg19) ; chr7:g.41782378A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41782378A>C , CM000669.2:g.41782378A>C	GRCh38
NC_000007.13:g.41821976A>C , CM000669.1:g.41821976A>C	GRCh37
NC_000007.12:g.41788501A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745185.1:n.964+46664A>C
XR_001745186.1:n.954+46674A>C