Canonical Allele Identifier: CA338228166

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1495656
• ClinVar RCV Id: RCV003303599 ; RCV002015328
• dbSNP Id: rs2101541516
• MyVariant Identifiers: chr1:g.17371330A>C (hg19) ; chr1:g.17044835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044835A>C , CM000663.2:g.17044835A>C	GRCh38
NC_000001.10:g.17371330A>C , CM000663.1:g.17371330A>C	GRCh37
NC_000001.9:g.17243917A>C	NCBI36
NG_012340.1:g.14336T>G , LRG_316:g.14336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-46T>G	ENSP00000481376.2:n.-46T>G
ENST00000491274.6:c.84T>G	ENSP00000480482.2:p.Phe28Leu
ENST00000375499.8:c.126T>G MANE Select	ENSP00000364649.3:p.Phe42Leu
ENST00000375499.7:c.126T>G	ENSP00000364649.3:p.Phe42Leu
ENST00000463045.2:c.-46T>G	ENSP00000481376.1:n.-46T>G
ENST00000466613.2:n.138T>G
ENST00000475506.1:n.43T>G
ENST00000485515.5:n.114T>G
ENST00000491274.5:c.84T>G	ENSP00000480482.1:p.Phe28Leu
NM_003000.2:c.126T>G , LRG_316t1:c.126T>G	NP_002991.2:p.Phe42Leu
NM_003000.3:c.126T>G MANE Select	NP_002991.2:p.Phe42Leu