Canonical Allele Identifier: CA982866773

Gene:

Linked Data

• gnomAD v3: 17-30237351-G-T
• gnomAD v4: 17-30237351-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237351G>T , CM000679.2:g.30237351G>T	GRCh38
NC_000017.10:g.28564369G>T , CM000679.1:g.28564369G>T	GRCh37
NC_000017.9:g.25588495G>T	NCBI36
NG_011747.2:g.3586C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+281G>T
XR_001752824.1:n.280+281G>T