Canonical Allele Identifier: CA2643680368

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2932956
• ClinVar RCV Id: RCV003798122
• gnomAD v4: 1-17053933-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17053933G>A , CM000663.2:g.17053933G>A	GRCh38
NC_000001.10:g.17380428G>A , CM000663.1:g.17380428G>A	GRCh37
NC_000001.9:g.17253015G>A	NCBI36
NG_012340.1:g.5238C>T , LRG_316:g.5238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375499.8:c.72+15C>T MANE Select	ENSP00000364649.3:n.72+15C>T
ENST00000375499.7:c.72+15C>T	ENSP00000364649.3:n.72+15C>T
ENST00000466613.2:n.84+15C>T
ENST00000485515.5:n.60+15C>T
NM_003000.2:c.72+15C>T , LRG_316t1:c.72+15C>T	NP_002991.2:n.72+15C>T
NM_003000.3:c.72+15C>T MANE Select	NP_002991.2:n.72+15C>T