Canonical Allele Identifier: CA338269961

Gene: SDHB

Linked Data

• ClinVar Variation Id: 656886
• ClinVar RCV Id: RCV000813402 ; RCV004028790
• dbSNP Id: rs1570944737
• MyVariant Identifiers: chr1:g.17349105T>C (hg19) ; chr1:g.17022610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022610T>C , CM000663.2:g.17022610T>C	GRCh38
NC_000001.10:g.17349105T>C , CM000663.1:g.17349105T>C	GRCh37
NC_000001.9:g.17221692T>C	NCBI36
NG_012340.1:g.36561A>G , LRG_316:g.36561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.592A>G	ENSP00000481376.2:p.Lys198Glu
ENST00000491274.6:c.721A>G	ENSP00000480482.2:p.Lys241Glu
ENST00000375499.8:c.763A>G MANE Select	ENSP00000364649.3:p.Lys255Glu
ENST00000375499.7:c.763A>G	ENSP00000364649.3:p.Lys255Glu
ENST00000475049.5:n.188A>G
ENST00000485092.5:n.427A>G
ENST00000485515.5:n.697A>G
NM_003000.2:c.763A>G , LRG_316t1:c.763A>G	NP_002991.2:p.Lys255Glu
NM_003000.3:c.763A>G MANE Select	NP_002991.2:p.Lys255Glu