Canonical Allele Identifier: CA658820982

Gene: SDHB

Linked Data

• ClinVar Variation Id: 545881
• ClinVar RCV Id: RCV000657477 ; RCV003767889
• dbSNP Id: rs1553177669
• MyVariant Identifiers: chr1:g.17354247dup (hg19) ; chr1:g.17027752dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027754dup , CM000663.2:g.17027754dup	GRCh38
NC_000001.10:g.17354249dup , CM000663.1:g.17354249dup	GRCh37
NC_000001.9:g.17226836dup	NCBI36
NG_012340.1:g.31419dup , LRG_316:g.31419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.366dup	ENSP00000481376.2:p.Leu123ThrfsTer14
ENST00000491274.6:c.495dup	ENSP00000480482.2:p.Leu166ThrfsTer14
ENST00000375499.8:c.537dup MANE Select	ENSP00000364649.3:p.Leu180ThrfsTer14
ENST00000375499.7:c.537dup	ENSP00000364649.3:p.Leu180ThrfsTer14
ENST00000463045.2:c.366dup	ENSP00000481376.1:p.Leu123ThrfsTer?
ENST00000475506.1:n.454dup
ENST00000485515.5:n.471dup
ENST00000491274.5:c.495dup	ENSP00000480482.1:p.Leu166ThrfsTer14
NM_003000.2:c.537dup , LRG_316t1:c.537dup	NP_002991.2:p.Leu180ThrfsTer14
NM_003000.3:c.537dup MANE Select	NP_002991.2:p.Leu180ThrfsTer14