Canonical Allele Identifier: CA157048399

Gene:

Linked Data

• dbSNP Id: rs917824347
• gnomAD v3: 7-41782390-T-G
• gnomAD v4: 7-41782390-T-G
• MyVariant Identifiers: chr7:g.41821988T>G (hg19) ; chr7:g.41782390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41782390T>G , CM000669.2:g.41782390T>G	GRCh38
NC_000007.13:g.41821988T>G , CM000669.1:g.41821988T>G	GRCh37
NC_000007.12:g.41788513T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745185.1:n.964+46676T>G
XR_001745186.1:n.954+46686T>G