Canonical Allele Identifier: CA168906899

Gene:

Linked Data

• dbSNP Id: rs113341116
• gnomAD v2: 7-148257985-T-A
• gnomAD v3: 7-148560893-T-A
• gnomAD v4: 7-148560893-T-A
• MyVariant Identifiers: chr7:g.148257985T>A (hg19) ; chr7:g.148560893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560893T>A , CM000669.2:g.148560893T>A	GRCh38
NC_000007.13:g.148257985T>A , CM000669.1:g.148257985T>A	GRCh37
NC_000007.12:g.147888918T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7207A>T
XR_928100.1:n.433+7207A>T