Canonical Allele Identifier: CA474523582

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1315164835
• gnomAD v4: 11-61446044-T-C
• MyVariant Identifiers: chr11:g.61213516T>C (hg19) ; chr11:g.61446044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446044T>C , CM000673.2:g.61446044T>C	GRCh38
NC_000011.9:g.61213516T>C , CM000673.1:g.61213516T>C	GRCh37
NC_000011.8:g.60970092T>C	NCBI36
NG_023393.1:g.20920T>C , LRG_519:g.20920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.474T>C MANE Select	ENSP00000301761.3:p.Leu158=
ENST00000301761.6:c.474T>C	ENSP00000301761.2:p.Leu158=
ENST00000536670.5:n.396+7931T>C
ENST00000537782.5:c.*120T>C	ENSP00000469951.1:n.*120T>C
ENST00000538594.5:c.370+7931T>C	ENSP00000440939.1:n.370+7931T>C
ENST00000541135.5:c.377+7924T>C	ENSP00000443130.1:n.377+7924T>C
ENST00000542074.1:c.*53T>C	ENSP00000469670.1:n.*53T>C
ENST00000542794.5:c.*476T>C	ENSP00000439983.1:n.*476T>C
ENST00000543044.2:c.438T>C	ENSP00000440219.1:p.Leu146=
ENST00000543265.1:c.*97T>C	ENSP00000443660.1:n.*97T>C
ENST00000544025.5:n.465+7931T>C
ENST00000544801.5:c.370+7931T>C	ENSP00000442581.1:n.370+7931T>C
ENST00000544880.1:n.374+7931T>C
NM_017841.2:c.474T>C , LRG_519t1:c.474T>C	NP_060311.1:p.Leu158=
NM_017841.4:c.474T>C MANE Select	NP_060311.1:p.Leu158=