Canonical Allele Identifier: CA18665939
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 480839
ClinVar RCV Id: RCV000564159 RCV000803790 RCV001194403 RCV003476324
dbSNP Id: rs1049317868
gnomAD v2: 1-17354302-T-C
gnomAD v3: 1-17027807-T-C
gnomAD v4: 1-17027807-T-C
COSMIC: COSM4025204
MyVariant Identifiers: chr1:g.17354302T>C (hg19) chr1:g.17027807T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027807T>C , CM000663.2:g.17027807T>C GRCh38
NC_000001.10:g.17354302T>C , CM000663.1:g.17354302T>C GRCh37
NC_000001.9:g.17226889T>C NCBI36
NG_012340.1:g.31364A>G , LRG_316:g.31364A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.311A>G ENSP00000481376.2:p.Asp104Gly
ENST00000491274.6:c.440A>G ENSP00000480482.2:p.Asp147Gly
ENST00000375499.8:c.482A>G MANE Select ENSP00000364649.3:p.Asp161Gly
ENST00000375499.7:c.482A>G ENSP00000364649.3:p.Asp161Gly
ENST00000463045.2:c.311A>G ENSP00000481376.1:p.Asp104Gly
ENST00000475506.1:n.399A>G
ENST00000485515.5:n.416A>G
ENST00000491274.5:c.440A>G ENSP00000480482.1:p.Asp147Gly
NM_003000.2:c.482A>G , LRG_316t1:c.482A>G NP_002991.2:p.Asp161Gly
NM_003000.3:c.482A>G MANE Select NP_002991.2:p.Asp161Gly
Search 100 bp 5'
Search 100 bp 3'