Canonical Allele Identifier: CA521039284
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17028580A>G
GRCh37 chr1:g.17355075A>G
gnomAD v2:
1:17355075 A / G
gnomAD v4:
chr1-17028580-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV002198625
ClinVar Variation:
1669558
dbSNP:
190139590
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028580A>G , CM000663.2:g.17028580A>G GRCh38
NC_000001.10:g.17355075A>G , CM000663.1:g.17355075A>G GRCh37
NC_000001.9:g.17227662A>G NCBI36
NG_012340.1:g.30591T>C , LRG_316:g.30591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.252+20T>C ENSP00000481376.2:n.252+20T>C
ENST00000491274.6:c.381+20T>C ENSP00000480482.2:n.381+20T>C
ENST00000375499.8:c.423+20T>C MANE Select ENSP00000364649.3:n.423+20T>C
ENST00000375499.7:c.423+20T>C ENSP00000364649.3:n.423+20T>C
ENST00000463045.2:c.252+20T>C ENSP00000481376.1:n.252+20T>C
ENST00000475506.1:n.340+20T>C
ENST00000485515.5:n.357+74T>C
ENST00000491274.5:c.381+20T>C ENSP00000480482.1:n.381+20T>C
NM_003000.2:c.423+20T>C , LRG_316t1:c.423+20T>C NP_002991.2:n.423+20T>C
NM_003000.3:c.423+20T>C MANE Select NP_002991.2:n.423+20T>C
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