Canonical Allele Identifier: CA089640
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412469
ClinVar RCV Id: RCV000470780 RCV000564144 RCV000757752 RCV004001998
dbSNP Id: rs149091125
ExAC: 1:17354255 G / A
gnomAD v2: 1-17354255-G-A
gnomAD v3: 1-17027760-G-A
gnomAD v4: 1-17027760-G-A
MyVariant Identifiers: chr1:g.17354255G>A (hg19) chr1:g.17027760G>A (hg38)
PubMed: PMID:23512077
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027760G>A , CM000663.2:g.17027760G>A GRCh38
NC_000001.10:g.17354255G>A , CM000663.1:g.17354255G>A GRCh37
NC_000001.9:g.17226842G>A NCBI36
NG_012340.1:g.31411C>T , LRG_316:g.31411C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.358C>T ENSP00000481376.2:p.Arg120Cys
ENST00000491274.6:c.487C>T ENSP00000480482.2:p.Arg163Cys
ENST00000375499.8:c.529C>T MANE Select ENSP00000364649.3:p.Arg177Cys
ENST00000375499.7:c.529C>T ENSP00000364649.3:p.Arg177Cys
ENST00000463045.2:c.358C>T ENSP00000481376.1:p.Arg120Cys
ENST00000475506.1:n.446C>T
ENST00000485515.5:n.463C>T
ENST00000491274.5:c.487C>T ENSP00000480482.1:p.Arg163Cys
NM_003000.2:c.529C>T , LRG_316t1:c.529C>T NP_002991.2:p.Arg177Cys
NM_003000.3:c.529C>T MANE Select NP_002991.2:p.Arg177Cys
Search 100 bp 5'
Search 100 bp 3'