Canonical Allele Identifier: CA338273300

Gene: SDHB

Linked Data

• ClinVar Variation Id: 659744
• ClinVar RCV Id: RCV001776031 ; RCV000816792 ; RCV003166361
• dbSNP Id: rs1570947984
• MyVariant Identifiers: chr1:g.17354338T>C (hg19) ; chr1:g.17027843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027843T>C , CM000663.2:g.17027843T>C	GRCh38
NC_000001.10:g.17354338T>C , CM000663.1:g.17354338T>C	GRCh37
NC_000001.9:g.17226925T>C	NCBI36
NG_012340.1:g.31328A>G , LRG_316:g.31328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.275A>G	ENSP00000481376.2:p.Gln92Arg
ENST00000491274.6:c.404A>G	ENSP00000480482.2:p.Gln135Arg
ENST00000375499.8:c.446A>G MANE Select	ENSP00000364649.3:p.Gln149Arg
ENST00000375499.7:c.446A>G	ENSP00000364649.3:p.Gln149Arg
ENST00000463045.2:c.275A>G	ENSP00000481376.1:p.Gln92Arg
ENST00000475506.1:n.363A>G
ENST00000485515.5:n.380A>G
ENST00000491274.5:c.404A>G	ENSP00000480482.1:p.Gln135Arg
NM_003000.2:c.446A>G , LRG_316t1:c.446A>G	NP_002991.2:p.Gln149Arg
NM_003000.3:c.446A>G MANE Select	NP_002991.2:p.Gln149Arg