Canonical Allele Identifier: CA18665926

Gene: SDHB

Linked Data

• ClinVar Variation Id: 459152
• ClinVar RCV Id: RCV000545296 ; RCV002341282
• dbSNP Id: rs138937650
• MyVariant Identifiers: chr1:g.17354268C>T (hg19) ; chr1:g.17027773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027773C>T , CM000663.2:g.17027773C>T	GRCh38
NC_000001.10:g.17354268C>T , CM000663.1:g.17354268C>T	GRCh37
NC_000001.9:g.17226855C>T	NCBI36
NG_012340.1:g.31398G>A , LRG_316:g.31398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.345G>A	ENSP00000481376.2:p.Gln115=
ENST00000491274.6:c.474G>A	ENSP00000480482.2:p.Gln158=
ENST00000375499.8:c.516G>A MANE Select	ENSP00000364649.3:p.Gln172=
ENST00000375499.7:c.516G>A	ENSP00000364649.3:p.Gln172=
ENST00000463045.2:c.345G>A	ENSP00000481376.1:p.Gln115=
ENST00000475506.1:n.433G>A
ENST00000485515.5:n.450G>A
ENST00000491274.5:c.474G>A	ENSP00000480482.1:p.Gln158=
NM_003000.2:c.516G>A , LRG_316t1:c.516G>A	NP_002991.2:p.Gln172=
NM_003000.3:c.516G>A MANE Select	NP_002991.2:p.Gln172=