Canonical Allele Identifier: CA982865341

Gene:

Linked Data

• gnomAD v3: 17-30237153-C-G
• gnomAD v4: 17-30237153-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237153C>G , CM000679.2:g.30237153C>G	GRCh38
NC_000017.10:g.28564171C>G , CM000679.1:g.28564171C>G	GRCh37
NC_000017.9:g.25588297C>G	NCBI36
NG_011747.2:g.3784G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+83C>G
XR_001752824.1:n.280+83C>G