Canonical Allele Identifier: CA338270256

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2945347
• ClinVar RCV Id: RCV003801001
• MyVariant Identifiers: chr1:g.17349156A>C (hg19) ; chr1:g.17022661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022661A>C , CM000663.2:g.17022661A>C	GRCh38
NC_000001.10:g.17349156A>C , CM000663.1:g.17349156A>C	GRCh37
NC_000001.9:g.17221743A>C	NCBI36
NG_012340.1:g.36510T>G , LRG_316:g.36510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.541T>G	ENSP00000481376.2:p.Phe181Val
ENST00000491274.6:c.670T>G	ENSP00000480482.2:p.Phe224Val
ENST00000375499.8:c.712T>G MANE Select	ENSP00000364649.3:p.Phe238Val
ENST00000375499.7:c.712T>G	ENSP00000364649.3:p.Phe238Val
ENST00000475049.5:n.137T>G
ENST00000485092.5:n.376T>G
ENST00000485515.5:n.646T>G
NM_003000.2:c.712T>G , LRG_316t1:c.712T>G	NP_002991.2:p.Phe238Val
NM_003000.3:c.712T>G MANE Select	NP_002991.2:p.Phe238Val