Canonical Allele Identifier: CA416085962

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1648012
• ClinVar RCV Id: RCV002140963 ; RCV002346517
• dbSNP Id: rs2101521670
• gnomAD v4: 1-17027797-C-T
• MyVariant Identifiers: chr1:g.17354292C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027797C>T , CM000663.2:g.17027797C>T	GRCh38
NC_000001.10:g.17354292C>T , CM000663.1:g.17354292C>T	GRCh37
NC_000001.9:g.17226879C>T	NCBI36
NG_012340.1:g.31374G>A , LRG_316:g.31374G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.321G>A	ENSP00000481376.2:p.Gln107=
ENST00000491274.6:c.450G>A	ENSP00000480482.2:p.Gln150=
ENST00000375499.8:c.492G>A MANE Select	ENSP00000364649.3:p.Gln164=
ENST00000375499.7:c.492G>A	ENSP00000364649.3:p.Gln164=
ENST00000463045.2:c.321G>A	ENSP00000481376.1:p.Gln107=
ENST00000475506.1:n.409G>A
ENST00000485515.5:n.426G>A
ENST00000491274.5:c.450G>A	ENSP00000480482.1:p.Gln150=
NM_003000.2:c.492G>A , LRG_316t1:c.492G>A	NP_002991.2:p.Gln164=
NM_003000.3:c.492G>A MANE Select	NP_002991.2:p.Gln164=