Canonical Allele Identifier: CA559663815

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1194707170
• gnomAD v2: 5-52942008-A-G
• gnomAD v3: 5-53646178-A-G
• gnomAD v4: 5-53646178-A-G
• MyVariant Identifiers: chr5:g.52942008A>G (hg19) ; chr5:g.53646178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646178A>G , CM000667.2:g.53646178A>G	GRCh38
NC_000005.9:g.52942008A>G , CM000667.1:g.52942008A>G	GRCh37
NC_000005.8:g.52977765A>G	NCBI36
NG_008200.1:g.90544A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-55A>G MANE Select	ENSP00000296684.5:n.178-55A>G
ENST00000296684.9:c.178-55A>G	ENSP00000296684.5:n.178-55A>G
ENST00000502423.5:c.*45-55A>G	ENSP00000422177.1:n.*45-55A>G
ENST00000506765.1:c.166-55A>G	ENSP00000424570.1:n.166-55A>G
ENST00000506974.5:c.350-55A>G	ENSP00000425967.1:n.350-55A>G
ENST00000507026.5:c.*152-55A>G	ENSP00000424993.1:n.*152-55A>G
NM_002495.2:c.178-55A>G	NP_002486.1:n.178-55A>G
XM_005248525.3:c.178-55A>G	XP_005248582.1:n.178-55A>G
XM_011543415.1:c.4-55A>G	XP_011541717.1:n.4-55A>G
NM_001318051.1:c.178-55A>G	NP_001304980.1:n.178-55A>G
NM_002495.3:c.178-55A>G	NP_002486.1:n.178-55A>G
NR_134473.1:n.380-55A>G
NR_134474.1:n.297-55A>G
NR_134475.1:n.332-55A>G
NM_002495.4:c.178-55A>G MANE Select	NP_002486.1:n.178-55A>G
NM_001318051.2:c.178-55A>G	NP_001304980.1:n.178-55A>G
NR_134473.2:n.374-55A>G
NR_134474.2:n.291-55A>G
NR_134475.2:n.326-55A>G