Canonical Allele Identifier: CA089745
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1759509
ClinVar RCV Id: RCV002394009 RCV003099677
dbSNP Id: rs769359897
ExAC: 1:17349113 G / A
gnomAD v2: 1-17349113-G-A
gnomAD v3: 1-17022618-G-A
gnomAD v4: 1-17022618-G-A
MyVariant Identifiers: chr1:g.17349113G>A (hg19) chr1:g.17022618G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022618G>A , CM000663.2:g.17022618G>A GRCh38
NC_000001.10:g.17349113G>A , CM000663.1:g.17349113G>A GRCh37
NC_000001.9:g.17221700G>A NCBI36
NG_012340.1:g.36553C>T , LRG_316:g.36553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.584C>T ENSP00000481376.2:p.Thr195Ile
ENST00000491274.6:c.713C>T ENSP00000480482.2:p.Thr238Ile
ENST00000375499.8:c.755C>T MANE Select ENSP00000364649.3:p.Thr252Ile
ENST00000375499.7:c.755C>T ENSP00000364649.3:p.Thr252Ile
ENST00000475049.5:n.180C>T
ENST00000485092.5:n.419C>T
ENST00000485515.5:n.689C>T
NM_003000.2:c.755C>T , LRG_316t1:c.755C>T NP_002991.2:p.Thr252Ile
NM_003000.3:c.755C>T MANE Select NP_002991.2:p.Thr252Ile
Search 100 bp 5'
Search 100 bp 3'