Canonical Allele Identifier: CA3264290

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2967999
• ClinVar RCV Id: RCV003826661
• dbSNP Id: rs568310378
• ExAC: 5:52954367 T / A
• gnomAD v2: 5-52954367-T-A
• gnomAD v3: 5-53658537-T-A
• gnomAD v4: 5-53658537-T-A
• MyVariant Identifiers: chr5:g.52954367T>A (hg19) ; chr5:g.53658537T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658537T>A , CM000667.2:g.53658537T>A	GRCh38
NC_000005.9:g.52954367T>A , CM000667.1:g.52954367T>A	GRCh37
NC_000005.8:g.52990124T>A	NCBI36
NG_008200.1:g.102903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-14T>A MANE Select	ENSP00000296684.5:n.351-14T>A
ENST00000296684.9:c.351-14T>A	ENSP00000296684.5:n.351-14T>A
ENST00000502423.5:c.*218-14T>A	ENSP00000422177.1:n.*218-14T>A
ENST00000506765.1:c.338+12132T>A	ENSP00000424570.1:n.338+12132T>A
ENST00000506974.5:c.*127-14T>A	ENSP00000425967.1:n.*127-14T>A
ENST00000507026.5:c.*325-14T>A	ENSP00000424993.1:n.*325-14T>A
ENST00000509443.1:n.212-14T>A
NM_002495.2:c.351-14T>A	NP_002486.1:n.351-14T>A
XM_005248525.3:c.350+12132T>A	XP_005248582.1:n.350+12132T>A
XM_011543415.1:c.177-14T>A	XP_011541717.1:n.177-14T>A
NM_001318051.1:c.350+12132T>A	NP_001304980.1:n.350+12132T>A
NM_002495.3:c.351-14T>A	NP_002486.1:n.351-14T>A
NR_134473.1:n.553-14T>A
NR_134474.1:n.470-14T>A
NR_134475.1:n.505-14T>A
NM_002495.4:c.351-14T>A MANE Select	NP_002486.1:n.351-14T>A
NM_001318051.2:c.350+12132T>A	NP_001304980.1:n.350+12132T>A
NR_134473.2:n.547-14T>A
NR_134474.2:n.464-14T>A
NR_134475.2:n.499-14T>A