Canonical Allele Identifier: CA1139655466

Gene: SDHB

Linked Data

• ClinVar Variation Id: 951355
• ClinVar RCV Id: RCV001223247
• dbSNP Id: rs2077999421

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027766dup , CM000663.2:g.17027766dup	GRCh38
NC_000001.10:g.17354261dup , CM000663.1:g.17354261dup	GRCh37
NC_000001.9:g.17226848dup	NCBI36
NG_012340.1:g.31405dup , LRG_316:g.31405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.352dup	ENSP00000481376.2:p.Glu118GlyfsTer4
ENST00000491274.6:c.481dup	ENSP00000480482.2:p.Glu161GlyfsTer4
ENST00000375499.8:c.523dup MANE Select	ENSP00000364649.3:p.Glu175GlyfsTer4
ENST00000375499.7:c.523dup	ENSP00000364649.3:p.Glu175GlyfsTer4
ENST00000463045.2:c.352dup	ENSP00000481376.1:p.Glu118GlyfsTer4
ENST00000475506.1:n.440dup
ENST00000485515.5:n.457dup
ENST00000491274.5:c.481dup	ENSP00000480482.1:p.Glu161GlyfsTer4
NM_003000.2:c.523dup , LRG_316t1:c.523dup	NP_002991.2:p.Glu175GlyfsTer4
NM_003000.3:c.523dup MANE Select	NP_002991.2:p.Glu175GlyfsTer4