Canonical Allele Identifier: CA982866511

Gene:

Linked Data

• dbSNP Id: rs1907323841
• gnomAD v3: 17-30237310-G-C
• gnomAD v4: 17-30237310-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237310G>C , CM000679.2:g.30237310G>C	GRCh38
NC_000017.10:g.28564328G>C , CM000679.1:g.28564328G>C	GRCh37
NC_000017.9:g.25588454G>C	NCBI36
NG_011747.2:g.3627C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+240G>C
XR_001752824.1:n.280+240G>C