Canonical Allele Identifier: CA338276451

Gene: SDHB

Linked Data

• ClinVar Variation Id: 3071481
• ClinVar RCV Id: RCV004015975
• MyVariant Identifiers: chr1:g.17359575A>C (hg19) ; chr1:g.17033080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17033080A>C , CM000663.2:g.17033080A>C	GRCh38
NC_000001.10:g.17359575A>C , CM000663.1:g.17359575A>C	GRCh37
NC_000001.9:g.17232162A>C	NCBI36
NG_012340.1:g.26091T>G , LRG_316:g.26091T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.95T>G	ENSP00000481376.2:p.Phe32Cys
ENST00000491274.6:c.224T>G	ENSP00000480482.2:p.Phe75Cys
ENST00000375499.8:c.266T>G MANE Select	ENSP00000364649.3:p.Phe89Cys
ENST00000375499.7:c.266T>G	ENSP00000364649.3:p.Phe89Cys
ENST00000463045.2:c.95T>G	ENSP00000481376.1:p.Phe32Cys
ENST00000466613.2:n.278T>G
ENST00000475506.1:n.183T>G
ENST00000485515.5:n.254T>G
ENST00000491274.5:c.224T>G	ENSP00000480482.1:p.Phe75Cys
NM_003000.2:c.266T>G , LRG_316t1:c.266T>G	NP_002991.2:p.Phe89Cys
NM_003000.3:c.266T>G MANE Select	NP_002991.2:p.Phe89Cys