Canonical Allele Identifier: CA916081284
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 840440
ClinVar RCV Id: RCV001042429
dbSNP Id: rs2077968833
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022697del , CM000663.2:g.17022697del GRCh38
NC_000001.10:g.17349192del , CM000663.1:g.17349192del GRCh37
NC_000001.9:g.17221779del NCBI36
NG_012340.1:g.36475del , LRG_316:g.36475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.506del ENSP00000481376.2:p.Phe169SerfsTer22
ENST00000491274.6:c.635del ENSP00000480482.2:p.Phe212SerfsTer22
ENST00000375499.8:c.677del MANE Select ENSP00000364649.3:p.Phe226SerfsTer22
ENST00000375499.7:c.677del ENSP00000364649.3:p.Phe226SerfsTer22
ENST00000475049.5:n.102del
ENST00000485092.5:n.341del
ENST00000485515.5:n.611del
NM_003000.2:c.677del , LRG_316t1:c.677del NP_002991.2:p.Phe226SerfsTer22
NM_003000.3:c.677del MANE Select NP_002991.2:p.Phe226SerfsTer22
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