Canonical Allele Identifier: CA832742524

Gene:

Linked Data

• dbSNP Id: rs1190600946
• gnomAD v3: 7-124306402-T-C
• gnomAD v4: 7-124306402-T-C
• MyVariant Identifiers: chr7:g.123946456T>C (hg19) ; chr7:g.124306402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306402T>C , CM000669.2:g.124306402T>C	GRCh38
NC_000007.13:g.123946456T>C , CM000669.1:g.123946456T>C	GRCh37
NC_000007.12:g.123733692T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002956584.1:n.73-76T>C