Canonical Allele Identifier: CA016064
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 183735
ClinVar RCV Id: RCV000162444 RCV000539362 RCV000984327 RCV001528474 RCV002466456 RCV003474840
dbSNP Id: rs200245469
gnomAD v2: 1-17349219-G-A
gnomAD v3: 1-17022724-G-A
gnomAD v4: 1-17022724-G-A
MyVariant Identifiers: chr1:g.17349219G>A (hg19) chr1:g.17022724G>A (hg38)
PubMed: PMID:19351833 PMID:19454582 PMID:19522823 PMID:19802898 PMID:24659481
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022724G>A , CM000663.2:g.17022724G>A GRCh38
NC_000001.10:g.17349219G>A , CM000663.1:g.17349219G>A GRCh37
NC_000001.9:g.17221806G>A NCBI36
NG_012340.1:g.36447C>T , LRG_316:g.36447C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.478C>T ENSP00000481376.2:p.Arg160Cys
ENST00000491274.6:c.607C>T ENSP00000480482.2:p.Arg203Cys
ENST00000375499.8:c.649C>T MANE Select ENSP00000364649.3:p.Arg217Cys
ENST00000375499.7:c.649C>T ENSP00000364649.3:p.Arg217Cys
ENST00000475049.5:n.74C>T
ENST00000485092.5:n.313C>T
ENST00000485515.5:n.583C>T
NM_003000.2:c.649C>T , LRG_316t1:c.649C>T NP_002991.2:p.Arg217Cys
NM_003000.3:c.649C>T MANE Select NP_002991.2:p.Arg217Cys
Search 100 bp 5'
Search 100 bp 3'