Canonical Allele Identifier: CA338270936
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 935786
dbSNP Id: rs1307247907
gnomAD v3: 1-17023980-A-T
gnomAD v4: 1-17023980-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17023980A>T , CM000663.2:g.17023980A>T GRCh38
NC_000001.10:g.17350475A>T , CM000663.1:g.17350475A>T GRCh37
NC_000001.9:g.17223062A>T NCBI36
NG_012340.1:g.35191T>A , LRG_316:g.35191T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.464T>A ENSP00000481376.2:p.Leu155His
ENST00000491274.6:c.593T>A ENSP00000480482.2:p.Leu198His
ENST00000375499.8:c.635T>A MANE Select ENSP00000364649.3:p.Leu212His
ENST00000375499.7:c.635T>A ENSP00000364649.3:p.Leu212His
ENST00000485515.5:n.569T>A
ENST00000491274.5:c.593T>A ENSP00000480482.1:p.Leu198His
NM_003000.2:c.635T>A , LRG_316t1:c.635T>A NP_002991.2:p.Leu212His
NM_003000.3:c.635T>A MANE Select NP_002991.2:p.Leu212His