Canonical Allele Identifier: CA915941151
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 826681
ClinVar RCV Id: RCV001025764
dbSNP Id: rs1570944890

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022685dup , CM000663.2:g.17022685dup GRCh38
NC_000001.10:g.17349180dup , CM000663.1:g.17349180dup GRCh37
NC_000001.9:g.17221767dup NCBI36
NG_012340.1:g.36486dup , LRG_316:g.36486dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.517dup ENSP00000481376.2:p.Arg173ProfsTer26
ENST00000491274.6:c.646dup ENSP00000480482.2:p.Arg216ProfsTer26
ENST00000375499.8:c.688dup MANE Select ENSP00000364649.3:p.Arg230ProfsTer26
ENST00000375499.7:c.688dup ENSP00000364649.3:p.Arg230ProfsTer26
ENST00000475049.5:n.113dup
ENST00000485092.5:n.352dup
ENST00000485515.5:n.622dup
NM_003000.2:c.688dup , LRG_316t1:c.688dup NP_002991.2:p.Arg230ProfsTer26
NM_003000.3:c.688dup MANE Select NP_002991.2:p.Arg230ProfsTer26