Canonical Allele Identifier: CA559656559

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 1300630
• ClinVar RCV Id: RCV001732950
• dbSNP Id: rs1234853657
• gnomAD v2: 5-52954613-C-CA
• gnomAD v3: 5-53658783-C-CA
• gnomAD v4: 5-53658783-C-CA
• MyVariant Identifiers: chr5:g.52954613_52954614insA (hg19) ; chr5:g.53658783_53658784insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658783_53658784insA , CM000667.2:g.53658783_53658784insA	GRCh38
NC_000005.9:g.52954613_52954614insA , CM000667.1:g.52954613_52954614insA	GRCh37
NC_000005.8:g.52990370_52990371insA	NCBI36
NG_008200.1:g.103149_103150insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+159_424+160insA MANE Select	ENSP00000296684.5:n.424+159_424+160insA
ENST00000296684.9:c.424+159_424+160insA	ENSP00000296684.5:n.424+159_424+160insA
ENST00000502423.5:c.*291+159_*291+160insA	ENSP00000422177.1:n.*291+159_*291+160insA
ENST00000506765.1:c.338+12378_338+12379insA	ENSP00000424570.1:n.338+12378_338+12379insA
ENST00000506974.5:c.*200+159_*200+160insA	ENSP00000425967.1:n.*200+159_*200+160insA
ENST00000507026.5:c.*398+159_*398+160insA	ENSP00000424993.1:n.*398+159_*398+160insA
ENST00000509443.1:n.444_445insA
NM_002495.2:c.424+159_424+160insA	NP_002486.1:n.424+159_424+160insA
XM_005248525.3:c.350+12378_350+12379insA	XP_005248582.1:n.350+12378_350+12379insA
XM_011543415.1:c.250+159_250+160insA	XP_011541717.1:n.250+159_250+160insA
NM_001318051.1:c.350+12378_350+12379insA	NP_001304980.1:n.350+12378_350+12379insA
NM_002495.3:c.424+159_424+160insA	NP_002486.1:n.424+159_424+160insA
NR_134473.1:n.626+159_626+160insA
NR_134474.1:n.543+159_543+160insA
NR_134475.1:n.578+159_578+160insA
NM_002495.4:c.424+159_424+160insA MANE Select	NP_002486.1:n.424+159_424+160insA
NM_001318051.2:c.350+12378_350+12379insA	NP_001304980.1:n.350+12378_350+12379insA
NR_134473.2:n.620+159_620+160insA
NR_134474.2:n.537+159_537+160insA
NR_134475.2:n.572+159_572+160insA