Canonical Allele Identifier: CA10577669

Gene: SDHB

Linked Data

• ClinVar Variation Id: 233795
• ClinVar RCV Id: RCV000221959 ; RCV001233559 ; RCV003227723 ; RCV003998576
• dbSNP Id: rs876660642
• gnomAD v2: 1-17349154-GA-G
• gnomAD v4: 1-17022659-GA-G
• MyVariant Identifiers: chr1:g.17349155del (hg19) ; chr1:g.17022660del (hg38)
• PubMed: PMID:16314641 ; PMID:16317055 ; PMID:19454582 ; PMID:22492777 ; PMID:25394176

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022661del , CM000663.2:g.17022661del	GRCh38
NC_000001.10:g.17349156del , CM000663.1:g.17349156del	GRCh37
NC_000001.9:g.17221743del	NCBI36
NG_012340.1:g.36511del , LRG_316:g.36511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.542del	ENSP00000481376.2:p.Phe181SerfsTer10
ENST00000491274.6:c.671del	ENSP00000480482.2:p.Phe224SerfsTer10
ENST00000375499.8:c.713del MANE Select	ENSP00000364649.3:p.Phe238SerfsTer10
ENST00000375499.7:c.713del	ENSP00000364649.3:p.Phe238SerfsTer10
ENST00000475049.5:n.138del
ENST00000485092.5:n.377del
ENST00000485515.5:n.647del
NM_003000.2:c.713del , LRG_316t1:c.713del	NP_002991.2:p.Phe238SerfsTer10
NM_003000.3:c.713del MANE Select	NP_002991.2:p.Phe238SerfsTer10