Canonical Allele Identifier: CA338270235
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1757579
ClinVar RCV Id: RCV002370773
dbSNP Id: rs1570944818
gnomAD v3: 1-17022655-G-C
gnomAD v4: 1-17022655-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022655G>C , CM000663.2:g.17022655G>C GRCh38
NC_000001.10:g.17349150G>C , CM000663.1:g.17349150G>C GRCh37
NC_000001.9:g.17221737G>C NCBI36
NG_012340.1:g.36516C>G , LRG_316:g.36516C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.547C>G ENSP00000481376.2:p.Leu183Val
ENST00000491274.6:c.676C>G ENSP00000480482.2:p.Leu226Val
ENST00000375499.8:c.718C>G MANE Select ENSP00000364649.3:p.Leu240Val
ENST00000375499.7:c.718C>G ENSP00000364649.3:p.Leu240Val
ENST00000475049.5:n.143C>G
ENST00000485092.5:n.382C>G
ENST00000485515.5:n.652C>G
NM_003000.2:c.718C>G , LRG_316t1:c.718C>G NP_002991.2:p.Leu240Val
NM_003000.3:c.718C>G MANE Select NP_002991.2:p.Leu240Val