Canonical Allele Identifier: CA119136906

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 1180205
• ClinVar RCV Id: RCV001537364
• dbSNP Id: rs1490769
• gnomAD v2: 5-52954280-G-A
• gnomAD v3: 5-53658450-G-A
• gnomAD v4: 5-53658450-G-A
• MyVariant Identifiers: chr5:g.52954280G>A (hg19) ; chr5:g.53658450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658450G>A , CM000667.2:g.53658450G>A	GRCh38
NC_000005.9:g.52954280G>A , CM000667.1:g.52954280G>A	GRCh37
NC_000005.8:g.52990037G>A	NCBI36
NG_008200.1:g.102816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-101G>A MANE Select	ENSP00000296684.5:n.351-101G>A
ENST00000296684.9:c.351-101G>A	ENSP00000296684.5:n.351-101G>A
ENST00000502423.5:c.*218-101G>A	ENSP00000422177.1:n.*218-101G>A
ENST00000506765.1:c.338+12045G>A	ENSP00000424570.1:n.338+12045G>A
ENST00000506974.5:c.*127-101G>A	ENSP00000425967.1:n.*127-101G>A
ENST00000507026.5:c.*325-101G>A	ENSP00000424993.1:n.*325-101G>A
ENST00000509443.1:n.212-101G>A
NM_002495.2:c.351-101G>A	NP_002486.1:n.351-101G>A
XM_005248525.3:c.350+12045G>A	XP_005248582.1:n.350+12045G>A
XM_011543415.1:c.177-101G>A	XP_011541717.1:n.177-101G>A
NM_001318051.1:c.350+12045G>A	NP_001304980.1:n.350+12045G>A
NM_002495.3:c.351-101G>A	NP_002486.1:n.351-101G>A
NR_134473.1:n.553-101G>A
NR_134474.1:n.470-101G>A
NR_134475.1:n.505-101G>A
NM_002495.4:c.351-101G>A MANE Select	NP_002486.1:n.351-101G>A
NM_001318051.2:c.350+12045G>A	NP_001304980.1:n.350+12045G>A
NR_134473.2:n.547-101G>A
NR_134474.2:n.464-101G>A
NR_134475.2:n.499-101G>A