Canonical Allele Identifier: CA089758
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 658364
ClinVar RCV Id: RCV000815177
dbSNP Id: rs761295633
ExAC: 1:17349103 C / G
gnomAD v2: 1-17349103-C-G
gnomAD v4: 1-17022608-C-G
MyVariant Identifiers: chr1:g.17349103C>G (hg19) chr1:g.17022608C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022608C>G , CM000663.2:g.17022608C>G GRCh38
NC_000001.10:g.17349103C>G , CM000663.1:g.17349103C>G GRCh37
NC_000001.9:g.17221690C>G NCBI36
NG_012340.1:g.36563G>C , LRG_316:g.36563G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.594G>C ENSP00000481376.2:p.Lys198Asn
ENST00000491274.6:c.723G>C ENSP00000480482.2:p.Lys241Asn
ENST00000375499.8:c.765G>C MANE Select ENSP00000364649.3:p.Lys255Asn
ENST00000375499.7:c.765G>C ENSP00000364649.3:p.Lys255Asn
ENST00000475049.5:n.190G>C
ENST00000485092.5:n.429G>C
ENST00000485515.5:n.699G>C
NM_003000.2:c.765G>C , LRG_316t1:c.765G>C NP_002991.2:p.Lys255Asn
NM_003000.3:c.765G>C MANE Select NP_002991.2:p.Lys255Asn
Search 100 bp 5'
Search 100 bp 3'