Canonical Allele Identifier: CA338228089

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1771745
• ClinVar RCV Id: RCV002389222
• gnomAD v4: 1-17044822-A-T
• MyVariant Identifiers: chr1:g.17371317A>T (hg19) ; chr1:g.17044822A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044822A>T , CM000663.2:g.17044822A>T	GRCh38
NC_000001.10:g.17371317A>T , CM000663.1:g.17371317A>T	GRCh37
NC_000001.9:g.17243904A>T	NCBI36
NG_012340.1:g.14349T>A , LRG_316:g.14349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-33T>A	ENSP00000481376.2:n.-33T>A
ENST00000491274.6:c.97T>A	ENSP00000480482.2:p.Trp33Arg
ENST00000375499.8:c.139T>A MANE Select	ENSP00000364649.3:p.Trp47Arg
ENST00000375499.7:c.139T>A	ENSP00000364649.3:p.Trp47Arg
ENST00000463045.2:c.-33T>A	ENSP00000481376.1:n.-33T>A
ENST00000466613.2:n.151T>A
ENST00000475506.1:n.56T>A
ENST00000485515.5:n.127T>A
ENST00000491274.5:c.97T>A	ENSP00000480482.1:p.Trp33Arg
NM_003000.2:c.139T>A , LRG_316t1:c.139T>A	NP_002991.2:p.Trp47Arg
NM_003000.3:c.139T>A MANE Select	NP_002991.2:p.Trp47Arg