Canonical Allele Identifier: CA444329858

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1752230274
• MyVariant Identifiers: chr5:g.52954405T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658575T>G , CM000667.2:g.53658575T>G	GRCh38
NC_000005.9:g.52954405T>G , CM000667.1:g.52954405T>G	GRCh37
NC_000005.8:g.52990162T>G	NCBI36
NG_008200.1:g.102941T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.375T>G MANE Select	ENSP00000296684.5:p.Val125=
ENST00000296684.9:c.375T>G	ENSP00000296684.5:p.Val125=
ENST00000502423.5:c.*242T>G	ENSP00000422177.1:n.*242T>G
ENST00000506765.1:c.338+12170T>G	ENSP00000424570.1:n.338+12170T>G
ENST00000506974.5:c.*151T>G	ENSP00000425967.1:n.*151T>G
ENST00000507026.5:c.*349T>G	ENSP00000424993.1:n.*349T>G
ENST00000509443.1:n.236T>G
NM_002495.2:c.375T>G	NP_002486.1:p.Val125=
XM_005248525.3:c.350+12170T>G	XP_005248582.1:n.350+12170T>G
XM_011543415.1:c.201T>G	XP_011541717.1:p.Val67=
NM_001318051.1:c.350+12170T>G	NP_001304980.1:n.350+12170T>G
NM_002495.3:c.375T>G	NP_002486.1:p.Val125=
NR_134473.1:n.577T>G
NR_134474.1:n.494T>G
NR_134475.1:n.529T>G
NM_002495.4:c.375T>G MANE Select	NP_002486.1:p.Val125=
NM_001318051.2:c.350+12170T>G	NP_001304980.1:n.350+12170T>G
NR_134473.2:n.571T>G
NR_134474.2:n.488T>G
NR_134475.2:n.523T>G