Canonical Allele Identifier: CA089742
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 459169
dbSNP Id: rs200896502
gnomAD v2: 1-17349129-T-C
gnomAD v3: 1-17022634-T-C
gnomAD v4: 1-17022634-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022634T>C , CM000663.2:g.17022634T>C GRCh38
NC_000001.10:g.17349129T>C , CM000663.1:g.17349129T>C GRCh37
NC_000001.9:g.17221716T>C NCBI36
NG_012340.1:g.36537A>G , LRG_316:g.36537A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.568A>G ENSP00000481376.2:p.Met190Val
ENST00000491274.6:c.697A>G ENSP00000480482.2:p.Met233Val
ENST00000375499.8:c.739A>G MANE Select ENSP00000364649.3:p.Met247Val
ENST00000375499.7:c.739A>G ENSP00000364649.3:p.Met247Val
ENST00000475049.5:n.164A>G
ENST00000485092.5:n.403A>G
ENST00000485515.5:n.673A>G
NM_003000.2:c.739A>G , LRG_316t1:c.739A>G NP_002991.2:p.Met247Val
NM_003000.3:c.739A>G MANE Select NP_002991.2:p.Met247Val