Canonical Allele Identifier: CA474523526

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 825016
• ClinVar RCV Id: RCV001022732
• dbSNP Id: rs1590769337
• gnomAD v4: 11-61446027-C-T
• MyVariant Identifiers: chr11:g.61213499C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446027C>T , CM000673.2:g.61446027C>T	GRCh38
NC_000011.9:g.61213499C>T , CM000673.1:g.61213499C>T	GRCh37
NC_000011.8:g.60970075C>T	NCBI36
NG_023393.1:g.20903C>T , LRG_519:g.20903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.457C>T MANE Select	ENSP00000301761.3:p.Leu153=
ENST00000301761.6:c.457C>T	ENSP00000301761.2:p.Leu153=
ENST00000536670.5:n.396+7914C>T
ENST00000537782.5:c.*103C>T	ENSP00000469951.1:n.*103C>T
ENST00000538594.5:c.370+7914C>T	ENSP00000440939.1:n.370+7914C>T
ENST00000541135.5:c.377+7907C>T	ENSP00000443130.1:n.377+7907C>T
ENST00000542074.1:c.*36C>T	ENSP00000469670.1:n.*36C>T
ENST00000542794.5:c.*459C>T	ENSP00000439983.1:n.*459C>T
ENST00000543044.2:c.421C>T	ENSP00000440219.1:p.Leu141=
ENST00000543265.1:c.*80C>T	ENSP00000443660.1:n.*80C>T
ENST00000544025.5:n.465+7914C>T
ENST00000544801.5:c.370+7914C>T	ENSP00000442581.1:n.370+7914C>T
ENST00000544880.1:n.374+7914C>T
NM_017841.2:c.457C>T , LRG_519t1:c.457C>T	NP_060311.1:p.Leu153=
NM_017841.4:c.457C>T MANE Select	NP_060311.1:p.Leu153=