Canonical Allele Identifier: CA016074

Gene: SDHB

Linked Data

• ClinVar Variation Id: 185077
• ClinVar RCV Id: RCV000164435 ; RCV000505374 ; RCV000520697 ; RCV000528137 ; RCV000660258
• dbSNP Id: rs138996609
• ExAC: 1:17349180 G / A
• gnomAD v2: 1-17349180-G-A
• gnomAD v3: 1-17022685-G-A
• gnomAD v4: 1-17022685-G-A
• COSMIC: COSM899738
• MyVariant Identifiers: chr1:g.17349180G>A (hg19) ; chr1:g.17022685G>A (hg38)
• PubMed: PMID:14500403 ; PMID:16103922 ; PMID:16317055 ; PMID:17652212 ; PMID:19351833 ; PMID:19393419 ; PMID:19454582 ; PMID:20208144 ; PMID:22835832

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022685G>A , CM000663.2:g.17022685G>A	GRCh38
NC_000001.10:g.17349180G>A , CM000663.1:g.17349180G>A	GRCh37
NC_000001.9:g.17221767G>A	NCBI36
NG_012340.1:g.36486C>T , LRG_316:g.36486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.517C>T	ENSP00000481376.2:p.Arg173Cys
ENST00000491274.6:c.646C>T	ENSP00000480482.2:p.Arg216Cys
ENST00000375499.8:c.688C>T MANE Select	ENSP00000364649.3:p.Arg230Cys
ENST00000375499.7:c.688C>T	ENSP00000364649.3:p.Arg230Cys
ENST00000475049.5:n.113C>T
ENST00000485092.5:n.352C>T
ENST00000485515.5:n.622C>T
NM_003000.2:c.688C>T , LRG_316t1:c.688C>T	NP_002991.2:p.Arg230Cys
NM_003000.3:c.688C>T MANE Select	NP_002991.2:p.Arg230Cys