Canonical Allele Identifier: CA416085696

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2935216
• ClinVar RCV Id: RCV003790870
• MyVariant Identifiers: chr1:g.17354256C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027761C>T , CM000663.2:g.17027761C>T	GRCh38
NC_000001.10:g.17354256C>T , CM000663.1:g.17354256C>T	GRCh37
NC_000001.9:g.17226843C>T	NCBI36
NG_012340.1:g.31410G>A , LRG_316:g.31410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.357G>A	ENSP00000481376.2:p.Glu119=
ENST00000491274.6:c.486G>A	ENSP00000480482.2:p.Glu162=
ENST00000375499.8:c.528G>A MANE Select	ENSP00000364649.3:p.Glu176=
ENST00000375499.7:c.528G>A	ENSP00000364649.3:p.Glu176=
ENST00000463045.2:c.357G>A	ENSP00000481376.1:p.Glu119=
ENST00000475506.1:n.445G>A
ENST00000485515.5:n.462G>A
ENST00000491274.5:c.486G>A	ENSP00000480482.1:p.Glu162=
NM_003000.2:c.528G>A , LRG_316t1:c.528G>A	NP_002991.2:p.Glu176=
NM_003000.3:c.528G>A MANE Select	NP_002991.2:p.Glu176=