Canonical Allele Identifier: CA015897

Gene: SDHB

Linked Data

• ClinVar Variation Id: 201606
• ClinVar RCV Id: RCV000183220 ; RCV000492455 ; RCV003765132
• dbSNP Id: rs794728949
• MyVariant Identifiers: chr1:g.17354303del (hg19) ; chr1:g.17027808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027809del , CM000663.2:g.17027809del	GRCh38
NC_000001.10:g.17354304del , CM000663.1:g.17354304del	GRCh37
NC_000001.9:g.17226891del	NCBI36
NG_012340.1:g.31363del , LRG_316:g.31363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.310del	ENSP00000481376.2:p.Asp104MetfsTer14
ENST00000491274.6:c.439del	ENSP00000480482.2:p.Asp147MetfsTer14
ENST00000375499.8:c.481del MANE Select	ENSP00000364649.3:p.Asp161MetfsTer14
ENST00000375499.7:c.481del	ENSP00000364649.3:p.Asp161MetfsTer14
ENST00000463045.2:c.310del	ENSP00000481376.1:p.Asp104MetfsTer14
ENST00000475506.1:n.398del
ENST00000485515.5:n.415del
ENST00000491274.5:c.439del	ENSP00000480482.1:p.Asp147MetfsTer14
NM_003000.2:c.481del , LRG_316t1:c.481del	NP_002991.2:p.Asp161MetfsTer14
NM_003000.3:c.481del MANE Select	NP_002991.2:p.Asp161MetfsTer14