Canonical Allele Identifier: CA812047640

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1389748716
• gnomAD v3: 5-53560761-G-GT
• gnomAD v4: 5-53560761-G-GT
• MyVariant Identifiers: chr5:g.52856591_52856592insT (hg19) ; chr5:g.53560761_53560762insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560762dup , CM000667.2:g.53560762dup	GRCh38
NC_000005.9:g.52856592dup , CM000667.1:g.52856592dup	GRCh37
NC_000005.8:g.52892349dup	NCBI36
NG_008200.1:g.5128dup

Transcript Alleles

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