Canonical Allele Identifier: CA016022
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 183747
ClinVar RCV Id: RCV000162460 RCV000462889 RCV000505334 RCV001523819 RCV001577788 RCV003474841
dbSNP Id: rs397516836
gnomAD v3: 1-17024015-C-A
gnomAD v4: 1-17024015-C-A
MyVariant Identifiers: chr1:g.17350510C>A (hg19) chr1:g.17024015C>A (hg38)
PubMed: PMID:17143317 PMID:18840642 PMID:19184535 PMID:20119652 PMID:20418362 PMID:21173220 PMID:22835832 PMID:26173966
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17024015C>A , CM000663.2:g.17024015C>A GRCh38
NC_000001.10:g.17350510C>A , CM000663.1:g.17350510C>A GRCh37
NC_000001.9:g.17223097C>A NCBI36
NG_012340.1:g.35156G>T , LRG_316:g.35156G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.429G>T ENSP00000481376.2:p.Trp143Cys
ENST00000491274.6:c.558G>T ENSP00000480482.2:p.Trp186Cys
ENST00000375499.8:c.600G>T MANE Select ENSP00000364649.3:p.Trp200Cys
ENST00000375499.7:c.600G>T ENSP00000364649.3:p.Trp200Cys
ENST00000485515.5:n.534G>T
ENST00000491274.5:c.558G>T ENSP00000480482.1:p.Trp186Cys
NM_003000.2:c.600G>T , LRG_316t1:c.600G>T NP_002991.2:p.Trp200Cys
NM_003000.3:c.600G>T MANE Select NP_002991.2:p.Trp200Cys
Search 100 bp 5'
Search 100 bp 3'