Canonical Allele Identifier: CA841571727

Gene:

Linked Data

• dbSNP Id: rs1248672503
• gnomAD v3: 7-69147017-G-A
• gnomAD v4: 7-69147017-G-A
• MyVariant Identifiers: chr7:g.68612004G>A (hg19) ; chr7:g.69147017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69147017G>A , CM000669.2:g.69147017G>A	GRCh38
NC_000007.13:g.68612004G>A , CM000669.1:g.68612004G>A	GRCh37
NC_000007.12:g.68249940G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927647.1:n.88-891C>T