Canonical Allele Identifier: CA089701
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1753536
ClinVar RCV Id: RCV002361779
dbSNP Id: rs772798766
ExAC: 1:17349225 C / T
gnomAD v2: 1-17349225-C-T
gnomAD v4: 1-17022730-C-T
MyVariant Identifiers: chr1:g.17349225C>T (hg19) chr1:g.17022730C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022730C>T , CM000663.2:g.17022730C>T GRCh38
NC_000001.10:g.17349225C>T , CM000663.1:g.17349225C>T GRCh37
NC_000001.9:g.17221812C>T NCBI36
NG_012340.1:g.36441G>A , LRG_316:g.36441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.472G>A ENSP00000481376.2:p.Ala158Thr
ENST00000491274.6:c.601G>A ENSP00000480482.2:p.Ala201Thr
ENST00000375499.8:c.643G>A MANE Select ENSP00000364649.3:p.Ala215Thr
ENST00000375499.7:c.643G>A ENSP00000364649.3:p.Ala215Thr
ENST00000475049.5:n.68G>A
ENST00000485092.5:n.307G>A
ENST00000485515.5:n.577G>A
NM_003000.2:c.643G>A , LRG_316t1:c.643G>A NP_002991.2:p.Ala215Thr
NM_003000.3:c.643G>A MANE Select NP_002991.2:p.Ala215Thr
Search 100 bp 5'
Search 100 bp 3'