Canonical Allele Identifier: CA3264230

Gene: NDUFS4

Linked Data

• dbSNP Id: rs759712153
• ExAC: 5:52942039 T / G
• gnomAD v2: 5-52942039-T-G
• gnomAD v3: 5-53646209-T-G
• gnomAD v4: 5-53646209-T-G
• MyVariant Identifiers: chr5:g.52942039T>G (hg19) ; chr5:g.53646209T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646209T>G , CM000667.2:g.53646209T>G	GRCh38
NC_000005.9:g.52942039T>G , CM000667.1:g.52942039T>G	GRCh37
NC_000005.8:g.52977796T>G	NCBI36
NG_008200.1:g.90575T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-24T>G MANE Select	ENSP00000296684.5:n.178-24T>G
ENST00000296684.9:c.178-24T>G	ENSP00000296684.5:n.178-24T>G
ENST00000502423.5:c.*45-24T>G	ENSP00000422177.1:n.*45-24T>G
ENST00000506765.1:c.166-24T>G	ENSP00000424570.1:n.166-24T>G
ENST00000506974.5:c.350-24T>G	ENSP00000425967.1:n.350-24T>G
ENST00000507026.5:c.*152-24T>G	ENSP00000424993.1:n.*152-24T>G
ENST00000509443.1:n.15T>G
NM_002495.2:c.178-24T>G	NP_002486.1:n.178-24T>G
XM_005248525.3:c.178-24T>G	XP_005248582.1:n.178-24T>G
XM_011543415.1:c.4-24T>G	XP_011541717.1:n.4-24T>G
NM_001318051.1:c.178-24T>G	NP_001304980.1:n.178-24T>G
NM_002495.3:c.178-24T>G	NP_002486.1:n.178-24T>G
NR_134473.1:n.380-24T>G
NR_134474.1:n.297-24T>G
NR_134475.1:n.332-24T>G
NM_002495.4:c.178-24T>G MANE Select	NP_002486.1:n.178-24T>G
NM_001318051.2:c.178-24T>G	NP_001304980.1:n.178-24T>G
NR_134473.2:n.374-24T>G
NR_134474.2:n.291-24T>G
NR_134475.2:n.326-24T>G