Canonical Allele Identifier: CA416087523

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1664982
• ClinVar RCV Id: RCV002191385
• dbSNP Id: rs2101522982
• gnomAD v4: 1-17028618-C-T
• MyVariant Identifiers: chr1:g.17355113C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028618C>T , CM000663.2:g.17028618C>T	GRCh38
NC_000001.10:g.17355113C>T , CM000663.1:g.17355113C>T	GRCh37
NC_000001.9:g.17227700C>T	NCBI36
NG_012340.1:g.30553G>A , LRG_316:g.30553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.234G>A	ENSP00000481376.2:p.Val78=
ENST00000491274.6:c.363G>A	ENSP00000480482.2:p.Val121=
ENST00000375499.8:c.405G>A MANE Select	ENSP00000364649.3:p.Val135=
ENST00000375499.7:c.405G>A	ENSP00000364649.3:p.Val135=
ENST00000463045.2:c.234G>A	ENSP00000481376.1:p.Val78=
ENST00000475506.1:n.322G>A
ENST00000485515.5:n.357+36G>A
ENST00000491274.5:c.363G>A	ENSP00000480482.1:p.Val121=
NM_003000.2:c.405G>A , LRG_316t1:c.405G>A	NP_002991.2:p.Val135=
NM_003000.3:c.405G>A MANE Select	NP_002991.2:p.Val135=