Canonical Allele Identifier: CA18665993

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1372931
• ClinVar RCV Id: RCV001874938 ; RCV002331385
• dbSNP Id: rs200353146
• gnomAD v4: 1-17027842-C-A
• MyVariant Identifiers: chr1:g.17354337C>A (hg19) ; chr1:g.17027842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027842C>A , CM000663.2:g.17027842C>A	GRCh38
NC_000001.10:g.17354337C>A , CM000663.1:g.17354337C>A	GRCh37
NC_000001.9:g.17226924C>A	NCBI36
NG_012340.1:g.31329G>T , LRG_316:g.31329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.276G>T	ENSP00000481376.2:p.Gln92His
ENST00000491274.6:c.405G>T	ENSP00000480482.2:p.Gln135His
ENST00000375499.8:c.447G>T MANE Select	ENSP00000364649.3:p.Gln149His
ENST00000375499.7:c.447G>T	ENSP00000364649.3:p.Gln149His
ENST00000463045.2:c.276G>T	ENSP00000481376.1:p.Gln92His
ENST00000475506.1:n.364G>T
ENST00000485515.5:n.381G>T
ENST00000491274.5:c.405G>T	ENSP00000480482.1:p.Gln135His
NM_003000.2:c.447G>T , LRG_316t1:c.447G>T	NP_002991.2:p.Gln149His
NM_003000.3:c.447G>T MANE Select	NP_002991.2:p.Gln149His