Canonical Allele Identifier: CA338274013

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1014604
• ClinVar RCV Id: RCV001313359
• dbSNP Id: rs2078004335
• MyVariant Identifiers: chr1:g.17355111A>C (hg19) ; chr1:g.17028616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028616A>C , CM000663.2:g.17028616A>C	GRCh38
NC_000001.10:g.17355111A>C , CM000663.1:g.17355111A>C	GRCh37
NC_000001.9:g.17227698A>C	NCBI36
NG_012340.1:g.30555T>G , LRG_316:g.30555T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.236T>G	ENSP00000481376.2:p.Ile79Arg
ENST00000491274.6:c.365T>G	ENSP00000480482.2:p.Ile122Arg
ENST00000375499.8:c.407T>G MANE Select	ENSP00000364649.3:p.Ile136Arg
ENST00000375499.7:c.407T>G	ENSP00000364649.3:p.Ile136Arg
ENST00000463045.2:c.236T>G	ENSP00000481376.1:p.Ile79Arg
ENST00000475506.1:n.324T>G
ENST00000485515.5:n.357+38T>G
ENST00000491274.5:c.365T>G	ENSP00000480482.1:p.Ile122Arg
NM_003000.2:c.407T>G , LRG_316t1:c.407T>G	NP_002991.2:p.Ile136Arg
NM_003000.3:c.407T>G MANE Select	NP_002991.2:p.Ile136Arg