Canonical Allele Identifier: CA416081680

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1097988
• ClinVar RCV Id: RCV001419763 ; RCV002395956 ; RCV004006953
• dbSNP Id: rs2101513519
• MyVariant Identifiers: chr1:g.17349106A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022611A>G , CM000663.2:g.17022611A>G	GRCh38
NC_000001.10:g.17349106A>G , CM000663.1:g.17349106A>G	GRCh37
NC_000001.9:g.17221693A>G	NCBI36
NG_012340.1:g.36560T>C , LRG_316:g.36560T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.591T>C	ENSP00000481376.2:p.Pro197=
ENST00000491274.6:c.720T>C	ENSP00000480482.2:p.Pro240=
ENST00000375499.8:c.762T>C MANE Select	ENSP00000364649.3:p.Pro254=
ENST00000375499.7:c.762T>C	ENSP00000364649.3:p.Pro254=
ENST00000475049.5:n.187T>C
ENST00000485092.5:n.426T>C
ENST00000485515.5:n.696T>C
NM_003000.2:c.762T>C , LRG_316t1:c.762T>C	NP_002991.2:p.Pro254=
NM_003000.3:c.762T>C MANE Select	NP_002991.2:p.Pro254=