Canonical Allele Identifier: CA338270225

Gene: SDHB

Linked Data

• COSMIC: COSM4964107
• MyVariant Identifiers: chr1:g.17349149A>T (hg19) ; chr1:g.17022654A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022654A>T , CM000663.2:g.17022654A>T	GRCh38
NC_000001.10:g.17349149A>T , CM000663.1:g.17349149A>T	GRCh37
NC_000001.9:g.17221736A>T	NCBI36
NG_012340.1:g.36517T>A , LRG_316:g.36517T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.548T>A	ENSP00000481376.2:p.Leu183Gln
ENST00000491274.6:c.677T>A	ENSP00000480482.2:p.Leu226Gln
ENST00000375499.8:c.719T>A MANE Select	ENSP00000364649.3:p.Leu240Gln
ENST00000375499.7:c.719T>A	ENSP00000364649.3:p.Leu240Gln
ENST00000475049.5:n.144T>A
ENST00000485092.5:n.383T>A
ENST00000485515.5:n.653T>A
NM_003000.2:c.719T>A , LRG_316t1:c.719T>A	NP_002991.2:p.Leu240Gln
NM_003000.3:c.719T>A MANE Select	NP_002991.2:p.Leu240Gln