Canonical Allele Identifier: CA16613364

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 416794
• ClinVar RCV Id: RCV000461014 ; RCV001014772
• dbSNP Id: rs892955355
• gnomAD v4: 11-61430167-C-T
• MyVariant Identifiers: chr11:g.61197639C>T (hg19) ; chr11:g.61430167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61430167C>T , CM000673.2:g.61430167C>T	GRCh38
NC_000011.9:g.61197639C>T , CM000673.1:g.61197639C>T	GRCh37
NC_000011.8:g.60954215C>T	NCBI36
NG_023393.1:g.5043C>T , LRG_519:g.5043C>T
NG_051815.1:g.4826G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301761.7:c.21C>T MANE Select	ENSP00000301761.3:p.Phe7=
ENST00000301761.6:c.21C>T	ENSP00000301761.2:p.Phe7=
ENST00000359614.9:c.21C>T	ENSP00000352630.5:p.Phe7=
ENST00000534878.5:c.21C>T	ENSP00000471030.1:p.Phe7=
ENST00000536250.1:c.21C>T	ENSP00000471120.1:p.Phe7=
ENST00000536670.5:n.47C>T
ENST00000537782.5:c.21C>T	ENSP00000469951.1:p.Phe7=
ENST00000538594.5:c.21C>T	ENSP00000440939.1:p.Phe7=
ENST00000541135.5:c.21C>T	ENSP00000443130.1:p.Phe7=
ENST00000542074.1:c.21C>T	ENSP00000469670.1:p.Phe7=
ENST00000542794.5:c.21C>T	ENSP00000439983.1:p.Phe7=
ENST00000543044.2:c.-16C>T	ENSP00000440219.1:n.-16C>T
ENST00000543265.1:c.21C>T	ENSP00000443660.1:p.Phe7=
ENST00000544025.5:n.131+817C>T
ENST00000544801.5:c.21C>T	ENSP00000442581.1:p.Phe7=
ENST00000544880.1:n.25C>T
ENST00000623232.1:n.44C>T
NM_017841.2:c.21C>T , LRG_519t1:c.21C>T	NP_060311.1:p.Phe7=
NM_017841.4:c.21C>T MANE Select	NP_060311.1:p.Phe7=