Canonical Allele Identifier: CA166591536

Gene:

Linked Data

• dbSNP Id: rs571359298
• gnomAD v3: 7-124306249-G-T
• gnomAD v4: 7-124306249-G-T
• MyVariant Identifiers: chr7:g.123946303G>T (hg19) ; chr7:g.124306249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306249G>T , CM000669.2:g.124306249G>T	GRCh38
NC_000007.13:g.123946303G>T , CM000669.1:g.123946303G>T	GRCh37
NC_000007.12:g.123733539G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956584.1:n.73-229G>T