Canonical Allele Identifier: CA3264265

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2780848
• ClinVar RCV Id: RCV003659651
• dbSNP Id: rs756116331
• ExAC: 5:52942209 A / G
• gnomAD v2: 5-52942209-A-G
• gnomAD v4: 5-53646379-A-G
• COSMIC: COSM4585899
• MyVariant Identifiers: chr5:g.52942209A>G (hg19) ; chr5:g.53646379A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646379A>G , CM000667.2:g.53646379A>G	GRCh38
NC_000005.9:g.52942209A>G , CM000667.1:g.52942209A>G	GRCh37
NC_000005.8:g.52977966A>G	NCBI36
NG_008200.1:g.90745A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.324A>G MANE Select	ENSP00000296684.5:p.Glu108=
ENST00000296684.9:c.324A>G	ENSP00000296684.5:p.Glu108=
ENST00000502423.5:c.*191A>G	ENSP00000422177.1:n.*191A>G
ENST00000506765.1:c.312A>G	ENSP00000424570.1:p.Glu104=
ENST00000506974.5:c.*100A>G	ENSP00000425967.1:n.*100A>G
ENST00000507026.5:c.*298A>G	ENSP00000424993.1:n.*298A>G
ENST00000509443.1:n.185A>G
NM_002495.2:c.324A>G	NP_002486.1:p.Glu108=
XM_005248525.3:c.324A>G	XP_005248582.1:p.Glu108=
XM_011543415.1:c.150A>G	XP_011541717.1:p.Glu50=
NM_001318051.1:c.324A>G	NP_001304980.1:p.Glu108=
NM_002495.3:c.324A>G	NP_002486.1:p.Glu108=
NR_134473.1:n.526A>G
NR_134474.1:n.443A>G
NR_134475.1:n.478A>G
NM_002495.4:c.324A>G MANE Select	NP_002486.1:p.Glu108=
NM_001318051.2:c.324A>G	NP_001304980.1:p.Glu108=
NR_134473.2:n.520A>G
NR_134474.2:n.437A>G
NR_134475.2:n.472A>G