Canonical Allele Identifier: CA338270387

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1755393
• ClinVar RCV Id: RCV002369361
• MyVariant Identifiers: chr1:g.17349191A>G (hg19) ; chr1:g.17022696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022696A>G , CM000663.2:g.17022696A>G	GRCh38
NC_000001.10:g.17349191A>G , CM000663.1:g.17349191A>G	GRCh37
NC_000001.9:g.17221778A>G	NCBI36
NG_012340.1:g.36475T>C , LRG_316:g.36475T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.506T>C	ENSP00000481376.2:p.Phe169Ser
ENST00000491274.6:c.635T>C	ENSP00000480482.2:p.Phe212Ser
ENST00000375499.8:c.677T>C MANE Select	ENSP00000364649.3:p.Phe226Ser
ENST00000375499.7:c.677T>C	ENSP00000364649.3:p.Phe226Ser
ENST00000475049.5:n.102T>C
ENST00000485092.5:n.341T>C
ENST00000485515.5:n.611T>C
NM_003000.2:c.677T>C , LRG_316t1:c.677T>C	NP_002991.2:p.Phe226Ser
NM_003000.3:c.677T>C MANE Select	NP_002991.2:p.Phe226Ser