Canonical Allele Identifier: CA338230578
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 428927
ClinVar RCV Id: RCV000492576 RCV002527067
dbSNP Id: rs587782703
gnomAD v2: 1-17380442-C-T
gnomAD v4: 1-17053947-C-T
MyVariant Identifiers: chr1:g.17380442C>T (hg19) chr1:g.17053947C>T (hg38)
PubMed: PMID:16317055 PMID:19454582 PMID:19802898
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053947C>T , CM000663.2:g.17053947C>T GRCh38
NC_000001.10:g.17380442C>T , CM000663.1:g.17380442C>T GRCh37
NC_000001.9:g.17253029C>T NCBI36
NG_012340.1:g.5224G>A , LRG_316:g.5224G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.72+1G>A MANE Select ENSP00000364649.3:n.72+1G>A
ENST00000375499.7:c.72+1G>A ENSP00000364649.3:n.72+1G>A
ENST00000466613.2:n.84+1G>A
ENST00000485515.5:n.60+1G>A
NM_003000.2:c.72+1G>A , LRG_316t1:c.72+1G>A NP_002991.2:n.72+1G>A
NM_003000.3:c.72+1G>A MANE Select NP_002991.2:n.72+1G>A
Search 100 bp 5'
Search 100 bp 3'