Canonical Allele Identifier: CA321285

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 214811
• ClinVar RCV Id: RCV000196869 ; RCV003765259
• dbSNP Id: rs372938532
• ExAC: 5:52954406 C / T
• gnomAD v2: 5-52954406-C-T
• gnomAD v3: 5-53658576-C-T
• gnomAD v4: 5-53658576-C-T
• MyVariant Identifiers: chr5:g.52954406C>T (hg19) ; chr5:g.53658576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658576C>T , CM000667.2:g.53658576C>T	GRCh38
NC_000005.9:g.52954406C>T , CM000667.1:g.52954406C>T	GRCh37
NC_000005.8:g.52990163C>T	NCBI36
NG_008200.1:g.102942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.376C>T MANE Select	ENSP00000296684.5:p.Leu126=
ENST00000296684.9:c.376C>T	ENSP00000296684.5:p.Leu126=
ENST00000502423.5:c.*243C>T	ENSP00000422177.1:n.*243C>T
ENST00000506765.1:c.338+12171C>T	ENSP00000424570.1:n.338+12171C>T
ENST00000506974.5:c.*152C>T	ENSP00000425967.1:n.*152C>T
ENST00000507026.5:c.*350C>T	ENSP00000424993.1:n.*350C>T
ENST00000509443.1:n.237C>T
NM_002495.2:c.376C>T	NP_002486.1:p.Leu126=
XM_005248525.3:c.350+12171C>T	XP_005248582.1:n.350+12171C>T
XM_011543415.1:c.202C>T	XP_011541717.1:p.Leu68=
NM_001318051.1:c.350+12171C>T	NP_001304980.1:n.350+12171C>T
NM_002495.3:c.376C>T	NP_002486.1:p.Leu126=
NR_134473.1:n.578C>T
NR_134474.1:n.495C>T
NR_134475.1:n.530C>T
NM_002495.4:c.376C>T MANE Select	NP_002486.1:p.Leu126=
NM_001318051.2:c.350+12171C>T	NP_001304980.1:n.350+12171C>T
NR_134473.2:n.572C>T
NR_134474.2:n.489C>T
NR_134475.2:n.524C>T