Canonical Allele Identifier: CA444329849

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1468751318
• MyVariant Identifiers: chr5:g.52954393A>G (hg19) ; chr5:g.53658563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658563A>G , CM000667.2:g.53658563A>G	GRCh38
NC_000005.9:g.52954393A>G , CM000667.1:g.52954393A>G	GRCh37
NC_000005.8:g.52990150A>G	NCBI36
NG_008200.1:g.102929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.363A>G MANE Select	ENSP00000296684.5:p.Leu121=
ENST00000296684.9:c.363A>G	ENSP00000296684.5:p.Leu121=
ENST00000502423.5:c.*230A>G	ENSP00000422177.1:n.*230A>G
ENST00000506765.1:c.338+12158A>G	ENSP00000424570.1:n.338+12158A>G
ENST00000506974.5:c.*139A>G	ENSP00000425967.1:n.*139A>G
ENST00000507026.5:c.*337A>G	ENSP00000424993.1:n.*337A>G
ENST00000509443.1:n.224A>G
NM_002495.2:c.363A>G	NP_002486.1:p.Leu121=
XM_005248525.3:c.350+12158A>G	XP_005248582.1:n.350+12158A>G
XM_011543415.1:c.189A>G	XP_011541717.1:p.Leu63=
NM_001318051.1:c.350+12158A>G	NP_001304980.1:n.350+12158A>G
NM_002495.3:c.363A>G	NP_002486.1:p.Leu121=
NR_134473.1:n.565A>G
NR_134474.1:n.482A>G
NR_134475.1:n.517A>G
NM_002495.4:c.363A>G MANE Select	NP_002486.1:p.Leu121=
NM_001318051.2:c.350+12158A>G	NP_001304980.1:n.350+12158A>G
NR_134473.2:n.559A>G
NR_134474.2:n.476A>G
NR_134475.2:n.511A>G