Canonical Allele Identifier: CA915941158

Gene: SDHB

Linked Data

• ClinVar Variation Id: 642012
• ClinVar RCV Id: RCV000795396
• dbSNP Id: rs1570958022

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044812_17044815dup , CM000663.2:g.17044812_17044815dup	GRCh38
NC_000001.10:g.17371307_17371310dup , CM000663.1:g.17371307_17371310dup	GRCh37
NC_000001.9:g.17243894_17243897dup	NCBI36
NG_012340.1:g.14358_14361dup , LRG_316:g.14358_14361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-24_-21dup	ENSP00000481376.2:n.-24_-21dup
ENST00000491274.6:c.106_109dup	ENSP00000480482.2:p.Lys37ArgfsTer13
ENST00000375499.8:c.148_151dup MANE Select	ENSP00000364649.3:p.Lys51ArgfsTer13
ENST00000375499.7:c.148_151dup	ENSP00000364649.3:p.Lys51ArgfsTer13
ENST00000463045.2:c.-24_-21dup	ENSP00000481376.1:n.-24_-21dup
ENST00000466613.2:n.160_163dup
ENST00000475506.1:n.65_68dup
ENST00000485515.5:n.136_139dup
ENST00000491274.5:c.106_109dup	ENSP00000480482.1:p.Lys37ArgfsTer13
NM_003000.2:c.148_151dup , LRG_316t1:c.148_151dup	NP_002991.2:p.Lys51ArgfsTer13
NM_003000.3:c.148_151dup MANE Select	NP_002991.2:p.Lys51ArgfsTer13