Canonical Allele Identifier: CA153871
Gene: NDUFS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 129700
dbSNP Id: rs31304
gnomAD v2: 5-52942083-A-C
gnomAD v3: 5-53646253-A-C
gnomAD v4: 5-53646253-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646253A>C , CM000667.2:g.53646253A>C GRCh38
NC_000005.9:g.52942083A>C , CM000667.1:g.52942083A>C GRCh37
NC_000005.8:g.52977840A>C NCBI36
NG_008200.1:g.90619A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.198A>C MANE Select ENSP00000296684.5:p.Gly66=
ENST00000296684.9:c.198A>C ENSP00000296684.5:p.Gly66=
ENST00000502423.5:c.*65A>C ENSP00000422177.1:n.*65A>C
ENST00000506765.1:c.186A>C ENSP00000424570.1:p.Gly62=
ENST00000506974.5:c.370A>C ENSP00000425967.1:p.Ser124Arg
ENST00000507026.5:c.*172A>C ENSP00000424993.1:n.*172A>C
ENST00000509443.1:n.59A>C
NM_002495.2:c.198A>C NP_002486.1:p.Gly66=
XM_005248525.3:c.198A>C XP_005248582.1:p.Gly66=
XM_011543415.1:c.24A>C XP_011541717.1:p.Gly8=
NM_001318051.1:c.198A>C NP_001304980.1:p.Gly66=
NM_002495.3:c.198A>C NP_002486.1:p.Gly66=
NR_134473.1:n.400A>C
NR_134474.1:n.317A>C
NR_134475.1:n.352A>C
NM_002495.4:c.198A>C MANE Select NP_002486.1:p.Gly66=
NM_001318051.2:c.198A>C NP_001304980.1:p.Gly66=
NR_134473.2:n.394A>C
NR_134474.2:n.311A>C
NR_134475.2:n.346A>C