Canonical Allele Identifier: CA1102732568

Gene:

Linked Data

• dbSNP Id: rs551265228
• gnomAD v3: 7-69146946-C-A
• gnomAD v4: 7-69146946-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69146946C>A , CM000669.2:g.69146946C>A	GRCh38
NC_000007.13:g.68611933C>A , CM000669.1:g.68611933C>A	GRCh37
NC_000007.12:g.68249869C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927647.1:n.88-820G>T