Canonical Allele Identifier: CA016135

Gene: SDHB

Linked Data

• ClinVar Variation Id: 201607
• ClinVar RCV Id: RCV000183221 ; RCV001026125 ; RCV001385644
• dbSNP Id: rs794728950
• MyVariant Identifiers: chr1:g.17349147_17349150del (hg19) ; chr1:g.17022652_17022655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022653_17022656del , CM000663.2:g.17022653_17022656del	GRCh38
NC_000001.10:g.17349148_17349151del , CM000663.1:g.17349148_17349151del	GRCh37
NC_000001.9:g.17221735_17221738del	NCBI36
NG_012340.1:g.36516_36519del , LRG_316:g.36516_36519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.547_550del	ENSP00000481376.2:p.Leu183ThrfsTer7
ENST00000491274.6:c.676_679del	ENSP00000480482.2:p.Leu226ThrfsTer7
ENST00000375499.8:c.718_721del MANE Select	ENSP00000364649.3:p.Leu240ThrfsTer7
ENST00000375499.7:c.718_721del	ENSP00000364649.3:p.Leu240ThrfsTer7
ENST00000475049.5:n.143_146del
ENST00000485092.5:n.382_385del
ENST00000485515.5:n.652_655del
NM_003000.2:c.718_721del , LRG_316t1:c.718_721del	NP_002991.2:p.Leu240ThrfsTer7
NM_003000.3:c.718_721del MANE Select	NP_002991.2:p.Leu240ThrfsTer7