Canonical Allele Identifier: CA016194
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 186518
ClinVar RCV Id: RCV000166126 RCV000505352 RCV001058703
dbSNP Id: rs747198089
ExAC: 1:17371367 TG / T
gnomAD v2: 1-17371367-TG-T
gnomAD v4: 1-17044872-TG-T
MyVariant Identifiers: chr1:g.17371368del (hg19) chr1:g.17044873del (hg38)
PubMed: PMID:12618761 PMID:19454582 PMID:19596260 PMID:24395865 PMID:25972245
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17044875del , CM000663.2:g.17044875del GRCh38
NC_000001.10:g.17371370del , CM000663.1:g.17371370del GRCh37
NC_000001.9:g.17243957del NCBI36
NG_012340.1:g.14298del , LRG_316:g.14298del

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.-84del ENSP00000481376.2:n.-84del
ENST00000491274.6:c.46del ENSP00000480482.2:p.Gln16ArgfsTer?
ENST00000375499.8:c.88del MANE Select ENSP00000364649.3:p.Gln30ArgfsTer?
ENST00000375499.7:c.88del ENSP00000364649.3:p.Gln30ArgfsTer?
ENST00000463045.2:c.-84del ENSP00000481376.1:n.-84del
ENST00000466613.2:n.100del
ENST00000475506.1:n.5del
ENST00000485515.5:n.76del
ENST00000491274.5:c.46del ENSP00000480482.1:p.Gln16ArgfsTer?
NM_003000.2:c.88del , LRG_316t1:c.88del NP_002991.2:p.Gln30ArgfsTer?
NM_003000.3:c.88del MANE Select NP_002991.2:p.Gln30ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'