Canonical Allele Identifier: CA1102732604

Gene:

Linked Data

• dbSNP Id: rs1788209756
• gnomAD v3: 7-69147066-G-A
• gnomAD v4: 7-69147066-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69147066G>A , CM000669.2:g.69147066G>A	GRCh38
NC_000007.13:g.68612053G>A , CM000669.1:g.68612053G>A	GRCh37
NC_000007.12:g.68249989G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927647.1:n.88-940C>T