Canonical Allele Identifier: CA015845
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 44643
ClinVar RCV Id: RCV000565686 RCV000037720
dbSNP Id: rs397516834
gnomAD v3: 1-17028608-G-A
gnomAD v4: 1-17028608-G-A
MyVariant Identifiers: chr1:g.17355103G>A (hg19) chr1:g.17028608G>A (hg38)
PubMed: PMID:27279923
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028608G>A , CM000663.2:g.17028608G>A GRCh38
NC_000001.10:g.17355103G>A , CM000663.1:g.17355103G>A GRCh37
NC_000001.9:g.17227690G>A NCBI36
NG_012340.1:g.30563C>T , LRG_316:g.30563C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.244C>T ENSP00000481376.2:p.Leu82Phe
ENST00000491274.6:c.373C>T ENSP00000480482.2:p.Leu125Phe
ENST00000375499.8:c.415C>T MANE Select ENSP00000364649.3:p.Leu139Phe
ENST00000375499.7:c.415C>T ENSP00000364649.3:p.Leu139Phe
ENST00000463045.2:c.244C>T ENSP00000481376.1:p.Leu82Phe
ENST00000475506.1:n.332C>T
ENST00000485515.5:n.357+46C>T
ENST00000491274.5:c.373C>T ENSP00000480482.1:p.Leu125Phe
NM_003000.2:c.415C>T , LRG_316t1:c.415C>T NP_002991.2:p.Leu139Phe
NM_003000.3:c.415C>T MANE Select NP_002991.2:p.Leu139Phe
Search 100 bp 5'
Search 100 bp 3'