Canonical Allele Identifier: CA3264135

Gene: NDUFS4

Linked Data

• dbSNP Id: rs188911977
• ExAC: 5:52856539 G / A
• gnomAD v2: 5-52856539-G-A
• gnomAD v3: 5-53560709-G-A
• gnomAD v4: 5-53560709-G-A
• MyVariant Identifiers: chr5:g.52856539G>A (hg19) ; chr5:g.53560709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560709G>A , CM000667.2:g.53560709G>A	GRCh38
NC_000005.9:g.52856539G>A , CM000667.1:g.52856539G>A	GRCh37
NC_000005.8:g.52892296G>A	NCBI36
NG_008200.1:g.5075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.47G>A MANE Select	ENSP00000296684.5:p.Arg16Gln
ENST00000296684.9:c.47G>A	ENSP00000296684.5:p.Arg16Gln
ENST00000502423.5:c.47G>A	ENSP00000422177.1:p.Arg16Gln
ENST00000506765.1:c.35G>A	ENSP00000424570.1:p.Arg12Gln
ENST00000506974.5:c.47G>A	ENSP00000425967.1:p.Arg16Gln
ENST00000507026.5:c.47G>A	ENSP00000424993.1:p.Arg16Gln
NM_002495.2:c.47G>A	NP_002486.1:p.Arg16Gln
XM_005248525.3:c.47G>A	XP_005248582.1:p.Arg16Gln
XM_011543414.1:c.47G>A	XP_011541716.1:p.Arg16Gln
NM_001318051.1:c.47G>A	NP_001304980.1:p.Arg16Gln
NM_002495.3:c.47G>A	NP_002486.1:p.Arg16Gln
NR_134473.1:n.77G>A
NR_134474.1:n.77G>A
NR_134475.1:n.77G>A
XM_017009491.1:c.47G>A	XP_016864980.1:p.Arg16Gln
NM_002495.4:c.47G>A MANE Select	NP_002486.1:p.Arg16Gln
NM_001318051.2:c.47G>A	NP_001304980.1:p.Arg16Gln
NR_134473.2:n.71G>A
NR_134474.2:n.71G>A
NR_134475.2:n.71G>A