Canonical Allele Identifier: CA416081911

Gene: SDHB

Linked Data

• ClinVar Variation Id: 826895
• ClinVar RCV Id: RCV001026131
• dbSNP Id: rs1570944818
• MyVariant Identifiers: chr1:g.17349150G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022655G>A , CM000663.2:g.17022655G>A	GRCh38
NC_000001.10:g.17349150G>A , CM000663.1:g.17349150G>A	GRCh37
NC_000001.9:g.17221737G>A	NCBI36
NG_012340.1:g.36516C>T , LRG_316:g.36516C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.547C>T	ENSP00000481376.2:p.Leu183=
ENST00000491274.6:c.676C>T	ENSP00000480482.2:p.Leu226=
ENST00000375499.8:c.718C>T MANE Select	ENSP00000364649.3:p.Leu240=
ENST00000375499.7:c.718C>T	ENSP00000364649.3:p.Leu240=
ENST00000475049.5:n.143C>T
ENST00000485092.5:n.382C>T
ENST00000485515.5:n.652C>T
NM_003000.2:c.718C>T , LRG_316t1:c.718C>T	NP_002991.2:p.Leu240=
NM_003000.3:c.718C>T MANE Select	NP_002991.2:p.Leu240=