Canonical Allele Identifier: CA015654
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17033077C>T
GRCh37 chr1:g.17359572C>T
Revel Score:
ENST00000375499 (MANE Select) 0.918
gnomAD v2:
1:17359572 C / T
gnomAD v3:
1:17033077 C / T
gnomAD v4:
chr1-17033077-C-T
Joint Max Group AF 0.00003466 (AFR)
Genomes Max Group AF 0.00003242 (AFR)
Exomes Max Group AF 0.00001664 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17033077C>T , CM000663.2:g.17033077C>T GRCh38
NC_000001.10:g.17359572C>T , CM000663.1:g.17359572C>T GRCh37
NC_000001.9:g.17232159C>T NCBI36
NG_012340.1:g.26094G>A , LRG_316:g.26094G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.98G>A ENSP00000481376.2:p.Arg33Gln
ENST00000491274.6:c.227G>A ENSP00000480482.2:p.Arg76Gln
ENST00000375499.8:c.269G>A MANE Select ENSP00000364649.3:p.Arg90Gln
ENST00000375499.7:c.269G>A ENSP00000364649.3:p.Arg90Gln
ENST00000463045.2:c.98G>A ENSP00000481376.1:p.Arg33Gln
ENST00000466613.2:n.281G>A
ENST00000475506.1:n.186G>A
ENST00000485515.5:n.257G>A
ENST00000491274.5:c.227G>A ENSP00000480482.1:p.Arg76Gln
NM_003000.2:c.269G>A , LRG_316t1:c.269G>A NP_002991.2:p.Arg90Gln
NM_003000.3:c.269G>A MANE Select NP_002991.2:p.Arg90Gln
Search 100 bp 5'
Search 100 bp 3'