Canonical Allele Identifier: CA338272655

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2013205
• ClinVar RCV Id: RCV002834495
• MyVariant Identifiers: chr1:g.17354281T>C (hg19) ; chr1:g.17027786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027786T>C , CM000663.2:g.17027786T>C	GRCh38
NC_000001.10:g.17354281T>C , CM000663.1:g.17354281T>C	GRCh37
NC_000001.9:g.17226868T>C	NCBI36
NG_012340.1:g.31385A>G , LRG_316:g.31385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.332A>G	ENSP00000481376.2:p.Gln111Arg
ENST00000491274.6:c.461A>G	ENSP00000480482.2:p.Gln154Arg
ENST00000375499.8:c.503A>G MANE Select	ENSP00000364649.3:p.Gln168Arg
ENST00000375499.7:c.503A>G	ENSP00000364649.3:p.Gln168Arg
ENST00000463045.2:c.332A>G	ENSP00000481376.1:p.Gln111Arg
ENST00000475506.1:n.420A>G
ENST00000485515.5:n.437A>G
ENST00000491274.5:c.461A>G	ENSP00000480482.1:p.Gln154Arg
NM_003000.2:c.503A>G , LRG_316t1:c.503A>G	NP_002991.2:p.Gln168Arg
NM_003000.3:c.503A>G MANE Select	NP_002991.2:p.Gln168Arg