Canonical Allele Identifier: CA016163

Gene: SDHB

Linked Data

• ClinVar Variation Id: 12781
• ClinVar RCV Id: RCV000013619 ; RCV000022778 ; RCV000129095 ; RCV000183216 ; RCV000505354 ; RCV000627751
• dbSNP Id: rs74315368
• ExAC: 1:17349143 C / T
• gnomAD v2: 1-17349143-C-T
• gnomAD v3: 1-17022648-C-T
• gnomAD v4: 1-17022648-C-T
• MyVariant Identifiers: chr1:g.17349143C>T (hg19) ; chr1:g.17022648C>T (hg38)
• PubMed: PMID:12000816 ; PMID:12213855 ; PMID:15235042 ; PMID:15328326 ; PMID:18551016 ; PMID:19075037 ; PMID:19351833 ; PMID:19454582 ; PMID:21173220 ; PMID:22517554 ; PMID:23175444 ; PMID:23666964 ; PMID:23902947 ; PMID:24276837 ; PMID:25025441 ; PMID:25047027 ; PMID:25736212 ; PMID:25873086 ; PMID:25972245

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022648C>T , CM000663.2:g.17022648C>T	GRCh38
NC_000001.10:g.17349143C>T , CM000663.1:g.17349143C>T	GRCh37
NC_000001.9:g.17221730C>T	NCBI36
NG_012340.1:g.36523G>A , LRG_316:g.36523G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.554G>A	ENSP00000481376.2:p.Arg185His
ENST00000491274.6:c.683G>A	ENSP00000480482.2:p.Arg228His
ENST00000375499.8:c.725G>A MANE Select	ENSP00000364649.3:p.Arg242His
ENST00000375499.7:c.725G>A	ENSP00000364649.3:p.Arg242His
ENST00000475049.5:n.150G>A
ENST00000485092.5:n.389G>A
ENST00000485515.5:n.659G>A
NM_003000.2:c.725G>A , LRG_316t1:c.725G>A	NP_002991.2:p.Arg242His
NM_003000.3:c.725G>A MANE Select	NP_002991.2:p.Arg242His