Canonical Allele Identifier: CA2673828377

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2796808
• ClinVar RCV Id: RCV003670824
• gnomAD v4: 5-53560768-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560768A>T , CM000667.2:g.53560768A>T	GRCh38
NC_000005.9:g.52856598A>T , CM000667.1:g.52856598A>T	GRCh37
NC_000005.8:g.52892355A>T	NCBI36
NG_008200.1:g.5134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.98+8A>T MANE Select	ENSP00000296684.5:n.98+8A>T
ENST00000296684.9:c.98+8A>T	ENSP00000296684.5:n.98+8A>T
ENST00000502423.5:c.98+8A>T	ENSP00000422177.1:n.98+8A>T
ENST00000506765.1:c.86+8A>T	ENSP00000424570.1:n.86+8A>T
ENST00000506974.5:c.98+8A>T	ENSP00000425967.1:n.98+8A>T
ENST00000507026.5:c.98+8A>T	ENSP00000424993.1:n.98+8A>T
NM_002495.2:c.98+8A>T	NP_002486.1:n.98+8A>T
XM_005248525.3:c.98+8A>T	XP_005248582.1:n.98+8A>T
XM_011543414.1:c.98+8A>T	XP_011541716.1:n.98+8A>T
NM_001318051.1:c.98+8A>T	NP_001304980.1:n.98+8A>T
NM_002495.3:c.98+8A>T	NP_002486.1:n.98+8A>T
NR_134473.1:n.128+8A>T
NR_134474.1:n.128+8A>T
NR_134475.1:n.128+8A>T
XM_017009491.1:c.98+8A>T	XP_016864980.1:n.98+8A>T
NM_002495.4:c.98+8A>T MANE Select	NP_002486.1:n.98+8A>T
NM_001318051.2:c.98+8A>T	NP_001304980.1:n.98+8A>T
NR_134473.2:n.122+8A>T
NR_134474.2:n.122+8A>T
NR_134475.2:n.122+8A>T