Canonical Allele Identifier: CA338273919

Gene: SDHB

Linked Data

• COSMIC: COSM5714092
• MyVariant Identifiers: chr1:g.17355103G>C (hg19) ; chr1:g.17028608G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028608G>C , CM000663.2:g.17028608G>C	GRCh38
NC_000001.10:g.17355103G>C , CM000663.1:g.17355103G>C	GRCh37
NC_000001.9:g.17227690G>C	NCBI36
NG_012340.1:g.30563C>G , LRG_316:g.30563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.244C>G	ENSP00000481376.2:p.Leu82Val
ENST00000491274.6:c.373C>G	ENSP00000480482.2:p.Leu125Val
ENST00000375499.8:c.415C>G MANE Select	ENSP00000364649.3:p.Leu139Val
ENST00000375499.7:c.415C>G	ENSP00000364649.3:p.Leu139Val
ENST00000463045.2:c.244C>G	ENSP00000481376.1:p.Leu82Val
ENST00000475506.1:n.332C>G
ENST00000485515.5:n.357+46C>G
ENST00000491274.5:c.373C>G	ENSP00000480482.1:p.Leu125Val
NM_003000.2:c.415C>G , LRG_316t1:c.415C>G	NP_002991.2:p.Leu139Val
NM_003000.3:c.415C>G MANE Select	NP_002991.2:p.Leu139Val