Canonical Allele Identifier: CA089641
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 239433
ClinVar RCV Id: RCV000229109 RCV000567446 RCV001818605 RCV002273996 RCV003475061
dbSNP Id: rs150437793
ExAC: 1:17354254 C / T
gnomAD v2: 1-17354254-C-T
gnomAD v3: 1-17027759-C-T
gnomAD v4: 1-17027759-C-T
MyVariant Identifiers: chr1:g.17354254C>T (hg19) chr1:g.17027759C>T (hg38)
PubMed: PMID:23175444 PMID:25595276 PMID:25791839
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027759C>T , CM000663.2:g.17027759C>T GRCh38
NC_000001.10:g.17354254C>T , CM000663.1:g.17354254C>T GRCh37
NC_000001.9:g.17226841C>T NCBI36
NG_012340.1:g.31412G>A , LRG_316:g.31412G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.359G>A ENSP00000481376.2:p.Arg120His
ENST00000491274.6:c.488G>A ENSP00000480482.2:p.Arg163His
ENST00000375499.8:c.530G>A MANE Select ENSP00000364649.3:p.Arg177His
ENST00000375499.7:c.530G>A ENSP00000364649.3:p.Arg177His
ENST00000463045.2:c.359G>A ENSP00000481376.1:p.Arg120His
ENST00000475506.1:n.447G>A
ENST00000485515.5:n.464G>A
ENST00000491274.5:c.488G>A ENSP00000480482.1:p.Arg163His
NM_003000.2:c.530G>A , LRG_316t1:c.530G>A NP_002991.2:p.Arg177His
NM_003000.3:c.530G>A MANE Select NP_002991.2:p.Arg177His
Search 100 bp 5'
Search 100 bp 3'