Canonical Allele Identifier: CA18663154
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1137615
ClinVar RCV Id: RCV001473640
dbSNP Id: rs778439194
gnomAD v2: 1-17350474-A-G
gnomAD v3: 1-17023979-A-G
gnomAD v4: 1-17023979-A-G
MyVariant Identifiers: chr1:g.17350474A>G (hg19) chr1:g.17023979A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17023979A>G , CM000663.2:g.17023979A>G GRCh38
NC_000001.10:g.17350474A>G , CM000663.1:g.17350474A>G GRCh37
NC_000001.9:g.17223061A>G NCBI36
NG_012340.1:g.35192T>C , LRG_316:g.35192T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.465T>C ENSP00000481376.2:p.Leu155=
ENST00000491274.6:c.594T>C ENSP00000480482.2:p.Leu198=
ENST00000375499.8:c.636T>C MANE Select ENSP00000364649.3:p.Leu212=
ENST00000375499.7:c.636T>C ENSP00000364649.3:p.Leu212=
ENST00000485515.5:n.570T>C
ENST00000491274.5:c.594T>C ENSP00000480482.1:p.Leu198=
NM_003000.2:c.636T>C , LRG_316t1:c.636T>C NP_002991.2:p.Leu212=
NM_003000.3:c.636T>C MANE Select NP_002991.2:p.Leu212=
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