Canonical Allele Identifier: CA089518
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 449495
ClinVar RCV Id: RCV000521448 RCV000693783 RCV001010888 RCV002268138 RCV003476220 RCV004003602
dbSNP Id: rs200418115
ExAC: 1:17371326 T / C
gnomAD v2: 1-17371326-T-C
gnomAD v3: 1-17044831-T-C
gnomAD v4: 1-17044831-T-C
MyVariant Identifiers: chr1:g.17371326T>C (hg19) chr1:g.17044831T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17044831T>C , CM000663.2:g.17044831T>C GRCh38
NC_000001.10:g.17371326T>C , CM000663.1:g.17371326T>C GRCh37
NC_000001.9:g.17243913T>C NCBI36
NG_012340.1:g.14340A>G , LRG_316:g.14340A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.-42A>G ENSP00000481376.2:n.-42A>G
ENST00000491274.6:c.88A>G ENSP00000480482.2:p.Ile30Val
ENST00000375499.8:c.130A>G MANE Select ENSP00000364649.3:p.Ile44Val
ENST00000375499.7:c.130A>G ENSP00000364649.3:p.Ile44Val
ENST00000463045.2:c.-42A>G ENSP00000481376.1:n.-42A>G
ENST00000466613.2:n.142A>G
ENST00000475506.1:n.47A>G
ENST00000485515.5:n.118A>G
ENST00000491274.5:c.88A>G ENSP00000480482.1:p.Ile30Val
NM_003000.2:c.130A>G , LRG_316t1:c.130A>G NP_002991.2:p.Ile44Val
NM_003000.3:c.130A>G MANE Select NP_002991.2:p.Ile44Val
Search 100 bp 5'
Search 100 bp 3'