Canonical Allele Identifier: CA416085892

Gene: SDHB

Linked Data

• ClinVar Variation Id: 758290
• ClinVar RCV Id: RCV001411781
• dbSNP Id: rs1570947881
• gnomAD v4: 1-17027788-C-T
• MyVariant Identifiers: chr1:g.17354283C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027788C>T , CM000663.2:g.17027788C>T	GRCh38
NC_000001.10:g.17354283C>T , CM000663.1:g.17354283C>T	GRCh37
NC_000001.9:g.17226870C>T	NCBI36
NG_012340.1:g.31383G>A , LRG_316:g.31383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.330G>A	ENSP00000481376.2:p.Lys110=
ENST00000491274.6:c.459G>A	ENSP00000480482.2:p.Lys153=
ENST00000375499.8:c.501G>A MANE Select	ENSP00000364649.3:p.Lys167=
ENST00000375499.7:c.501G>A	ENSP00000364649.3:p.Lys167=
ENST00000463045.2:c.330G>A	ENSP00000481376.1:p.Lys110=
ENST00000475506.1:n.418G>A
ENST00000485515.5:n.435G>A
ENST00000491274.5:c.459G>A	ENSP00000480482.1:p.Lys153=
NM_003000.2:c.501G>A , LRG_316t1:c.501G>A	NP_002991.2:p.Lys167=
NM_003000.3:c.501G>A MANE Select	NP_002991.2:p.Lys167=