Canonical Allele Identifier: CA089550
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 459140
ClinVar RCV Id: RCV000524825 RCV001015225
dbSNP Id: rs774960237
ExAC: 1:17359608 T / C
gnomAD v2: 1-17359608-T-C
gnomAD v4: 1-17033113-T-C
MyVariant Identifiers: chr1:g.17359608T>C (hg19) chr1:g.17033113T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17033113T>C , CM000663.2:g.17033113T>C GRCh38
NC_000001.10:g.17359608T>C , CM000663.1:g.17359608T>C GRCh37
NC_000001.9:g.17232195T>C NCBI36
NG_012340.1:g.26058A>G , LRG_316:g.26058A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.62A>G ENSP00000481376.2:p.Lys21Arg
ENST00000491274.6:c.191A>G ENSP00000480482.2:p.Lys64Arg
ENST00000375499.8:c.233A>G MANE Select ENSP00000364649.3:p.Lys78Arg
ENST00000375499.7:c.233A>G ENSP00000364649.3:p.Lys78Arg
ENST00000463045.2:c.62A>G ENSP00000481376.1:p.Lys21Arg
ENST00000466613.2:n.245A>G
ENST00000475506.1:n.150A>G
ENST00000485515.5:n.221A>G
ENST00000491274.5:c.191A>G ENSP00000480482.1:p.Lys64Arg
NM_003000.2:c.233A>G , LRG_316t1:c.233A>G NP_002991.2:p.Lys78Arg
NM_003000.3:c.233A>G MANE Select NP_002991.2:p.Lys78Arg
Search 100 bp 5'
Search 100 bp 3'