Canonical Allele Identifier: CA016163
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 12781
dbSNP Id: rs74315368
gnomAD v2: 1-17349143-C-T
gnomAD v3: 1-17022648-C-T
gnomAD v4: 1-17022648-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022648C>T , CM000663.2:g.17022648C>T GRCh38
NC_000001.10:g.17349143C>T , CM000663.1:g.17349143C>T GRCh37
NC_000001.9:g.17221730C>T NCBI36
NG_012340.1:g.36523G>A , LRG_316:g.36523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.554G>A ENSP00000481376.2:p.Arg185His
ENST00000491274.6:c.683G>A ENSP00000480482.2:p.Arg228His
ENST00000375499.8:c.725G>A MANE Select ENSP00000364649.3:p.Arg242His
ENST00000375499.7:c.725G>A ENSP00000364649.3:p.Arg242His
ENST00000475049.5:n.150G>A
ENST00000485092.5:n.389G>A
ENST00000485515.5:n.659G>A
NM_003000.2:c.725G>A , LRG_316t1:c.725G>A NP_002991.2:p.Arg242His
NM_003000.3:c.725G>A MANE Select NP_002991.2:p.Arg242His