Canonical Allele Identifier: CA982865356

Gene:

Linked Data

• gnomAD v3: 17-30237156-G-C
• gnomAD v4: 17-30237156-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237156G>C , CM000679.2:g.30237156G>C	GRCh38
NC_000017.10:g.28564174G>C , CM000679.1:g.28564174G>C	GRCh37
NC_000017.9:g.25588300G>C	NCBI36
NG_011747.2:g.3781C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+86G>C
XR_001752824.1:n.280+86G>C