Canonical Allele Identifier: CA359719177

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1337016527
• gnomAD v2: 5-52954413-T-A
• gnomAD v4: 5-53658583-T-A
• MyVariant Identifiers: chr5:g.52954413T>A (hg19) ; chr5:g.53658583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658583T>A , CM000667.2:g.53658583T>A	GRCh38
NC_000005.9:g.52954413T>A , CM000667.1:g.52954413T>A	GRCh37
NC_000005.8:g.52990170T>A	NCBI36
NG_008200.1:g.102949T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.383T>A MANE Select	ENSP00000296684.5:p.Phe128Tyr
ENST00000296684.9:c.383T>A	ENSP00000296684.5:p.Phe128Tyr
ENST00000502423.5:c.*250T>A	ENSP00000422177.1:n.*250T>A
ENST00000506765.1:c.338+12178T>A	ENSP00000424570.1:n.338+12178T>A
ENST00000506974.5:c.*159T>A	ENSP00000425967.1:n.*159T>A
ENST00000507026.5:c.*357T>A	ENSP00000424993.1:n.*357T>A
ENST00000509443.1:n.244T>A
NM_002495.2:c.383T>A	NP_002486.1:p.Phe128Tyr
XM_005248525.3:c.350+12178T>A	XP_005248582.1:n.350+12178T>A
XM_011543415.1:c.209T>A	XP_011541717.1:p.Phe70Tyr
NM_001318051.1:c.350+12178T>A	NP_001304980.1:n.350+12178T>A
NM_002495.3:c.383T>A	NP_002486.1:p.Phe128Tyr
NR_134473.1:n.585T>A
NR_134474.1:n.502T>A
NR_134475.1:n.537T>A
NM_002495.4:c.383T>A MANE Select	NP_002486.1:p.Phe128Tyr
NM_001318051.2:c.350+12178T>A	NP_001304980.1:n.350+12178T>A
NR_134473.2:n.579T>A
NR_134474.2:n.496T>A
NR_134475.2:n.531T>A