Canonical Allele Identifier: CA2592474117

Gene:

Linked Data

• gnomAD v3: 17-30237148-G-T
• gnomAD v4: 17-30237148-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237148G>T , CM000679.2:g.30237148G>T	GRCh38
NC_000017.10:g.28564166G>T , CM000679.1:g.28564166G>T	GRCh37
NC_000017.9:g.25588292G>T	NCBI36
NG_011747.2:g.3789C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+78G>T
XR_001752824.1:n.280+78G>T