Canonical Allele Identifier: CA359719716

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 3188335
• ClinVar RCV Id: RCV004480247
• dbSNP Id: rs1197802638
• gnomAD v3: 5-53646318-A-G
• gnomAD v4: 5-53646318-A-G
• MyVariant Identifiers: chr5:g.52942148A>G (hg19) ; chr5:g.53646318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646318A>G , CM000667.2:g.53646318A>G	GRCh38
NC_000005.9:g.52942148A>G , CM000667.1:g.52942148A>G	GRCh37
NC_000005.8:g.52977905A>G	NCBI36
NG_008200.1:g.90684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.263A>G MANE Select	ENSP00000296684.5:p.Gln88Arg
ENST00000296684.9:c.263A>G	ENSP00000296684.5:p.Gln88Arg
ENST00000502423.5:c.*130A>G	ENSP00000422177.1:n.*130A>G
ENST00000506765.1:c.251A>G	ENSP00000424570.1:p.Gln84Arg
ENST00000506974.5:c.*39A>G	ENSP00000425967.1:n.*39A>G
ENST00000507026.5:c.*237A>G	ENSP00000424993.1:n.*237A>G
ENST00000509443.1:n.124A>G
NM_002495.2:c.263A>G	NP_002486.1:p.Gln88Arg
XM_005248525.3:c.263A>G	XP_005248582.1:p.Gln88Arg
XM_011543415.1:c.89A>G	XP_011541717.1:p.Gln30Arg
NM_001318051.1:c.263A>G	NP_001304980.1:p.Gln88Arg
NM_002495.3:c.263A>G	NP_002486.1:p.Gln88Arg
NR_134473.1:n.465A>G
NR_134474.1:n.382A>G
NR_134475.1:n.417A>G
NM_002495.4:c.263A>G MANE Select	NP_002486.1:p.Gln88Arg
NM_001318051.2:c.263A>G	NP_001304980.1:p.Gln88Arg
NR_134473.2:n.459A>G
NR_134474.2:n.376A>G
NR_134475.2:n.411A>G