Canonical Allele Identifier: CA834982493

Gene:

Linked Data

• dbSNP Id: rs7807268
• gnomAD v3: 7-148560956-G-A
• gnomAD v4: 7-148560956-G-A
• MyVariant Identifiers: chr7:g.148258048G>A (hg19) ; chr7:g.148560956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560956G>A , CM000669.2:g.148560956G>A	GRCh38
NC_000007.13:g.148258048G>A , CM000669.1:g.148258048G>A	GRCh37
NC_000007.12:g.147888981G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928099.1:n.300+7144C>T
XR_928100.1:n.433+7144C>T