Canonical Allele Identifier: CA832742473

Gene:

Linked Data

• dbSNP Id: rs1175772103
• gnomAD v3: 7-124306280-C-T
• gnomAD v4: 7-124306280-C-T
• MyVariant Identifiers: chr7:g.123946334C>T (hg19) ; chr7:g.124306280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306280C>T , CM000669.2:g.124306280C>T	GRCh38
NC_000007.13:g.123946334C>T , CM000669.1:g.123946334C>T	GRCh37
NC_000007.12:g.123733570C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956584.1:n.73-198C>T