Canonical Allele Identifier: CA10581744
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 239437
dbSNP Id: rs878854578
gnomAD v4: 1-17022714-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022714A>G , CM000663.2:g.17022714A>G GRCh38
NC_000001.10:g.17349209A>G , CM000663.1:g.17349209A>G GRCh37
NC_000001.9:g.17221796A>G NCBI36
NG_012340.1:g.36457T>C , LRG_316:g.36457T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.488T>C ENSP00000481376.2:p.Ile163Thr
ENST00000491274.6:c.617T>C ENSP00000480482.2:p.Ile206Thr
ENST00000375499.8:c.659T>C MANE Select ENSP00000364649.3:p.Ile220Thr
ENST00000375499.7:c.659T>C ENSP00000364649.3:p.Ile220Thr
ENST00000475049.5:n.84T>C
ENST00000485092.5:n.323T>C
ENST00000485515.5:n.593T>C
NM_003000.2:c.659T>C , LRG_316t1:c.659T>C NP_002991.2:p.Ile220Thr
NM_003000.3:c.659T>C MANE Select NP_002991.2:p.Ile220Thr