Canonical Allele Identifier: CA982866889

Gene:

Linked Data

• gnomAD v3: 17-30237379-T-G
• gnomAD v4: 17-30237379-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237379T>G , CM000679.2:g.30237379T>G	GRCh38
NC_000017.10:g.28564397T>G , CM000679.1:g.28564397T>G	GRCh37
NC_000017.9:g.25588523T>G	NCBI36
NG_011747.2:g.3558A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-263T>G
XR_001752824.1:n.281-263T>G