Canonical Allele Identifier: CA359719528

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 488559
• ClinVar RCV Id: RCV000578463
• dbSNP Id: rs1554059248
• gnomAD v4: 5-53646231-A-G
• MyVariant Identifiers: chr5:g.52942061A>G (hg19) ; chr5:g.53646231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646231A>G , CM000667.2:g.53646231A>G	GRCh38
NC_000005.9:g.52942061A>G , CM000667.1:g.52942061A>G	GRCh37
NC_000005.8:g.52977818A>G	NCBI36
NG_008200.1:g.90597A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-2A>G MANE Select	ENSP00000296684.5:n.178-2A>G
ENST00000296684.9:c.178-2A>G	ENSP00000296684.5:n.178-2A>G
ENST00000502423.5:c.*45-2A>G	ENSP00000422177.1:n.*45-2A>G
ENST00000506765.1:c.166-2A>G	ENSP00000424570.1:n.166-2A>G
ENST00000506974.5:c.350-2A>G	ENSP00000425967.1:n.350-2A>G
ENST00000507026.5:c.*152-2A>G	ENSP00000424993.1:n.*152-2A>G
ENST00000509443.1:n.37A>G
NM_002495.2:c.178-2A>G	NP_002486.1:n.178-2A>G
XM_005248525.3:c.178-2A>G	XP_005248582.1:n.178-2A>G
XM_011543415.1:c.4-2A>G	XP_011541717.1:n.4-2A>G
NM_001318051.1:c.178-2A>G	NP_001304980.1:n.178-2A>G
NM_002495.3:c.178-2A>G	NP_002486.1:n.178-2A>G
NR_134473.1:n.380-2A>G
NR_134474.1:n.297-2A>G
NR_134475.1:n.332-2A>G
NM_002495.4:c.178-2A>G MANE Select	NP_002486.1:n.178-2A>G
NM_001318051.2:c.178-2A>G	NP_001304980.1:n.178-2A>G
NR_134473.2:n.374-2A>G
NR_134474.2:n.291-2A>G
NR_134475.2:n.326-2A>G