Canonical Allele Identifier: CA3264247

Gene: NDUFS4

Linked Data

• dbSNP Id: rs745877002
• ExAC: 5:52942097 A / G
• gnomAD v2: 5-52942097-A-G
• gnomAD v3: 5-53646267-A-G
• gnomAD v4: 5-53646267-A-G
• MyVariant Identifiers: chr5:g.52942097A>G (hg19) ; chr5:g.53646267A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646267A>G , CM000667.2:g.53646267A>G	GRCh38
NC_000005.9:g.52942097A>G , CM000667.1:g.52942097A>G	GRCh37
NC_000005.8:g.52977854A>G	NCBI36
NG_008200.1:g.90633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.212A>G MANE Select	ENSP00000296684.5:p.His71Arg
ENST00000296684.9:c.212A>G	ENSP00000296684.5:p.His71Arg
ENST00000502423.5:c.*79A>G	ENSP00000422177.1:n.*79A>G
ENST00000506765.1:c.200A>G	ENSP00000424570.1:p.His67Arg
ENST00000506974.5:c.384A>G	ENSP00000425967.1:p.Ala128=
ENST00000507026.5:c.*186A>G	ENSP00000424993.1:n.*186A>G
ENST00000509443.1:n.73A>G
NM_002495.2:c.212A>G	NP_002486.1:p.His71Arg
XM_005248525.3:c.212A>G	XP_005248582.1:p.His71Arg
XM_011543415.1:c.38A>G	XP_011541717.1:p.His13Arg
NM_001318051.1:c.212A>G	NP_001304980.1:p.His71Arg
NM_002495.3:c.212A>G	NP_002486.1:p.His71Arg
NR_134473.1:n.414A>G
NR_134474.1:n.331A>G
NR_134475.1:n.366A>G
NM_002495.4:c.212A>G MANE Select	NP_002486.1:p.His71Arg
NM_001318051.2:c.212A>G	NP_001304980.1:p.His71Arg
NR_134473.2:n.408A>G
NR_134474.2:n.325A>G
NR_134475.2:n.360A>G