Canonical Allele Identifier: CA444330333

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2855970
• ClinVar RCV Id: RCV003701675
• gnomAD v4: 5-53646274-A-G
• MyVariant Identifiers: chr5:g.52942104A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646274A>G , CM000667.2:g.53646274A>G	GRCh38
NC_000005.9:g.52942104A>G , CM000667.1:g.52942104A>G	GRCh37
NC_000005.8:g.52977861A>G	NCBI36
NG_008200.1:g.90640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.219A>G MANE Select	ENSP00000296684.5:p.Lys73=
ENST00000296684.9:c.219A>G	ENSP00000296684.5:p.Lys73=
ENST00000502423.5:c.*86A>G	ENSP00000422177.1:n.*86A>G
ENST00000506765.1:c.207A>G	ENSP00000424570.1:p.Lys69=
ENST00000506974.5:c.391A>G	ENSP00000425967.1:p.Asn131Asp
ENST00000507026.5:c.*193A>G	ENSP00000424993.1:n.*193A>G
ENST00000509443.1:n.80A>G
NM_002495.2:c.219A>G	NP_002486.1:p.Lys73=
XM_005248525.3:c.219A>G	XP_005248582.1:p.Lys73=
XM_011543415.1:c.45A>G	XP_011541717.1:p.Lys15=
NM_001318051.1:c.219A>G	NP_001304980.1:p.Lys73=
NM_002495.3:c.219A>G	NP_002486.1:p.Lys73=
NR_134473.1:n.421A>G
NR_134474.1:n.338A>G
NR_134475.1:n.373A>G
NM_002495.4:c.219A>G MANE Select	NP_002486.1:p.Lys73=
NM_001318051.2:c.219A>G	NP_001304980.1:p.Lys73=
NR_134473.2:n.415A>G
NR_134474.2:n.332A>G
NR_134475.2:n.367A>G