Canonical Allele Identifier: CA3264304

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 353891
• ClinVar RCV Id: RCV000310876 ; RCV000363200 ; RCV001515833 ; RCV002298576 ; RCV001778936
• dbSNP Id: rs140172554
• ExAC: 5:52954468 G / GT
• gnomAD v2: 5-52954468-G-GT
• gnomAD v3: 5-53658638-G-GT
• gnomAD v4: 5-53658638-G-GT
• MyVariant Identifiers: chr5:g.52954473dupT (hg19) ; chr5:g.52954468_52954469insT (hg19) ; chr5:g.53658643dupT (hg38) ; chr5:g.53658638_53658639insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658643dup , CM000667.2:g.53658643dup	GRCh38
NC_000005.9:g.52954473dup , CM000667.1:g.52954473dup	GRCh37
NC_000005.8:g.52990230dup	NCBI36
NG_008200.1:g.103009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+19dup MANE Select	ENSP00000296684.5:n.424+19dup
ENST00000296684.9:c.424+19dup	ENSP00000296684.5:n.424+19dup
ENST00000502423.5:c.*291+19dup	ENSP00000422177.1:n.*291+19dup
ENST00000506765.1:c.338+12238dup	ENSP00000424570.1:n.338+12238dup
ENST00000506974.5:c.*200+19dup	ENSP00000425967.1:n.*200+19dup
ENST00000507026.5:c.*398+19dup	ENSP00000424993.1:n.*398+19dup
ENST00000509443.1:n.304dup
NM_002495.2:c.424+19dup	NP_002486.1:n.424+19dup
XM_005248525.3:c.350+12238dup	XP_005248582.1:n.350+12238dup
XM_011543415.1:c.250+19dup	XP_011541717.1:n.250+19dup
NM_001318051.1:c.350+12238dup	NP_001304980.1:n.350+12238dup
NM_002495.3:c.424+19dup	NP_002486.1:n.424+19dup
NR_134473.1:n.626+19dup
NR_134474.1:n.543+19dup
NR_134475.1:n.578+19dup
NM_002495.4:c.424+19dup MANE Select	NP_002486.1:n.424+19dup
NM_001318051.2:c.350+12238dup	NP_001304980.1:n.350+12238dup
NR_134473.2:n.620+19dup
NR_134474.2:n.537+19dup
NR_134475.2:n.572+19dup