Canonical Allele Identifier: CA10581740
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 239443
ClinVar RCV Id: RCV000226466 RCV000523546 RCV000492633 RCV003514330 RCV003323466
dbSNP Id: rs786203251
gnomAD v4: 1-17022649-G-T
MyVariant Identifiers: chr1:g.17349144G>T (hg19) chr1:g.17022649G>T (hg38)
PubMed: PMID:19351833 PMID:23175444 PMID:25972245
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022649G>T , CM000663.2:g.17022649G>T GRCh38
NC_000001.10:g.17349144G>T , CM000663.1:g.17349144G>T GRCh37
NC_000001.9:g.17221731G>T NCBI36
NG_012340.1:g.36522C>A , LRG_316:g.36522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.553C>A ENSP00000481376.2:p.Arg185Ser
ENST00000491274.6:c.682C>A ENSP00000480482.2:p.Arg228Ser
ENST00000375499.8:c.724C>A MANE Select ENSP00000364649.3:p.Arg242Ser
ENST00000375499.7:c.724C>A ENSP00000364649.3:p.Arg242Ser
ENST00000475049.5:n.149C>A
ENST00000485092.5:n.388C>A
ENST00000485515.5:n.658C>A
NM_003000.2:c.724C>A , LRG_316t1:c.724C>A NP_002991.2:p.Arg242Ser
NM_003000.3:c.724C>A MANE Select NP_002991.2:p.Arg242Ser
Search 100 bp 5'
Search 100 bp 3'