Canonical Allele Identifier: CA18665895
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 528731
ClinVar RCV Id: RCV000633954 RCV001023786 RCV004003827 RCV003411504
dbSNP Id: rs202203339
gnomAD v2: 1-17354261-C-G
gnomAD v3: 1-17027766-C-G
gnomAD v4: 1-17027766-C-G
MyVariant Identifiers: chr1:g.17354261C>G (hg19) chr1:g.17027766C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027766C>G , CM000663.2:g.17027766C>G GRCh38
NC_000001.10:g.17354261C>G , CM000663.1:g.17354261C>G GRCh37
NC_000001.9:g.17226848C>G NCBI36
NG_012340.1:g.31405G>C , LRG_316:g.31405G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.352G>C ENSP00000481376.2:p.Glu118Gln
ENST00000491274.6:c.481G>C ENSP00000480482.2:p.Glu161Gln
ENST00000375499.8:c.523G>C MANE Select ENSP00000364649.3:p.Glu175Gln
ENST00000375499.7:c.523G>C ENSP00000364649.3:p.Glu175Gln
ENST00000463045.2:c.352G>C ENSP00000481376.1:p.Glu118Gln
ENST00000475506.1:n.440G>C
ENST00000485515.5:n.457G>C
ENST00000491274.5:c.481G>C ENSP00000480482.1:p.Glu161Gln
NM_003000.2:c.523G>C , LRG_316t1:c.523G>C NP_002991.2:p.Glu175Gln
NM_003000.3:c.523G>C MANE Select NP_002991.2:p.Glu175Gln
Search 100 bp 5'
Search 100 bp 3'