Canonical Allele Identifier: CA658795409

Gene: SDHB

Linked Data

• ClinVar Variation Id: 528741
• ClinVar RCV Id: RCV000633966
• dbSNP Id: rs398123690
• MyVariant Identifiers: chr1:g.17371344del (hg19) ; chr1:g.17044849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044852del , CM000663.2:g.17044852del	GRCh38
NC_000001.10:g.17371347del , CM000663.1:g.17371347del	GRCh37
NC_000001.9:g.17243934del	NCBI36
NG_012340.1:g.14322del , LRG_316:g.14322del

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.-60del	ENSP00000481376.2:n.-60del
ENST00000491274.6:c.70del	ENSP00000480482.2:p.Arg24ValfsTer?
ENST00000375499.8:c.112del MANE Select	ENSP00000364649.3:p.Arg38ValfsTer?
ENST00000375499.7:c.112del	ENSP00000364649.3:p.Arg38ValfsTer?
ENST00000463045.2:c.-60del	ENSP00000481376.1:n.-60del
ENST00000466613.2:n.124del
ENST00000475506.1:n.29del
ENST00000485515.5:n.100del
ENST00000491274.5:c.70del	ENSP00000480482.1:p.Arg24ValfsTer?
NM_003000.2:c.112del , LRG_316t1:c.112del	NP_002991.2:p.Arg38ValfsTer?
NM_003000.3:c.112del MANE Select	NP_002991.2:p.Arg38ValfsTer?