Canonical Allele Identifier: CA359719596

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2109527
• ClinVar RCV Id: RCV003038410
• MyVariant Identifiers: chr5:g.52942093G>T (hg19) ; chr5:g.53646263G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646263G>T , CM000667.2:g.53646263G>T	GRCh38
NC_000005.9:g.52942093G>T , CM000667.1:g.52942093G>T	GRCh37
NC_000005.8:g.52977850G>T	NCBI36
NG_008200.1:g.90629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.208G>T MANE Select	ENSP00000296684.5:p.Glu70Ter
ENST00000296684.9:c.208G>T	ENSP00000296684.5:p.Glu70Ter
ENST00000502423.5:c.*75G>T	ENSP00000422177.1:n.*75G>T
ENST00000506765.1:c.196G>T	ENSP00000424570.1:p.Glu66Ter
ENST00000506974.5:c.380G>T	ENSP00000425967.1:p.Arg127Ile
ENST00000507026.5:c.*182G>T	ENSP00000424993.1:n.*182G>T
ENST00000509443.1:n.69G>T
NM_002495.2:c.208G>T	NP_002486.1:p.Glu70Ter
XM_005248525.3:c.208G>T	XP_005248582.1:p.Glu70Ter
XM_011543415.1:c.34G>T	XP_011541717.1:p.Glu12Ter
NM_001318051.1:c.208G>T	NP_001304980.1:p.Glu70Ter
NM_002495.3:c.208G>T	NP_002486.1:p.Glu70Ter
NR_134473.1:n.410G>T
NR_134474.1:n.327G>T
NR_134475.1:n.362G>T
NM_002495.4:c.208G>T MANE Select	NP_002486.1:p.Glu70Ter
NM_001318051.2:c.208G>T	NP_001304980.1:p.Glu70Ter
NR_134473.2:n.404G>T
NR_134474.2:n.321G>T
NR_134475.2:n.356G>T