Canonical Allele Identifier: CA3264297

Gene: NDUFS4

Linked Data

• dbSNP Id: rs768341671
• ExAC: 5:52954408 A / G
• gnomAD v2: 5-52954408-A-G
• gnomAD v4: 5-53658578-A-G
• MyVariant Identifiers: chr5:g.52954408A>G (hg19) ; chr5:g.53658578A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658578A>G , CM000667.2:g.53658578A>G	GRCh38
NC_000005.9:g.52954408A>G , CM000667.1:g.52954408A>G	GRCh37
NC_000005.8:g.52990165A>G	NCBI36
NG_008200.1:g.102944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.378A>G MANE Select	ENSP00000296684.5:p.Leu126=
ENST00000296684.9:c.378A>G	ENSP00000296684.5:p.Leu126=
ENST00000502423.5:c.*245A>G	ENSP00000422177.1:n.*245A>G
ENST00000506765.1:c.338+12173A>G	ENSP00000424570.1:n.338+12173A>G
ENST00000506974.5:c.*154A>G	ENSP00000425967.1:n.*154A>G
ENST00000507026.5:c.*352A>G	ENSP00000424993.1:n.*352A>G
ENST00000509443.1:n.239A>G
NM_002495.2:c.378A>G	NP_002486.1:p.Leu126=
XM_005248525.3:c.350+12173A>G	XP_005248582.1:n.350+12173A>G
XM_011543415.1:c.204A>G	XP_011541717.1:p.Leu68=
NM_001318051.1:c.350+12173A>G	NP_001304980.1:n.350+12173A>G
NM_002495.3:c.378A>G	NP_002486.1:p.Leu126=
NR_134473.1:n.580A>G
NR_134474.1:n.497A>G
NR_134475.1:n.532A>G
NM_002495.4:c.378A>G MANE Select	NP_002486.1:p.Leu126=
NM_001318051.2:c.350+12173A>G	NP_001304980.1:n.350+12173A>G
NR_134473.2:n.574A>G
NR_134474.2:n.491A>G
NR_134475.2:n.526A>G