Canonical Allele Identifier: CA1076121713

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1234853657
• gnomAD v3: 5-53658783-C-CAAA
• gnomAD v4: 5-53658783-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658783_53658784insAAA , CM000667.2:g.53658783_53658784insAAA	GRCh38
NC_000005.9:g.52954613_52954614insAAA , CM000667.1:g.52954613_52954614insAAA	GRCh37
NC_000005.8:g.52990370_52990371insAAA	NCBI36
NG_008200.1:g.103149_103150insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+159_424+160insAAA MANE Select	ENSP00000296684.5:n.424+159_424+160insAAA
ENST00000296684.9:c.424+159_424+160insAAA	ENSP00000296684.5:n.424+159_424+160insAAA
ENST00000502423.5:c.*291+159_*291+160insAAA	ENSP00000422177.1:n.*291+159_*291+160insAAA
ENST00000506765.1:c.338+12378_338+12379insAAA	ENSP00000424570.1:n.338+12378_338+12379insAAA
ENST00000506974.5:c.*200+159_*200+160insAAA	ENSP00000425967.1:n.*200+159_*200+160insAAA
ENST00000507026.5:c.*398+159_*398+160insAAA	ENSP00000424993.1:n.*398+159_*398+160insAAA
ENST00000509443.1:n.444_445insAAA
NM_002495.2:c.424+159_424+160insAAA	NP_002486.1:n.424+159_424+160insAAA
XM_005248525.3:c.350+12378_350+12379insAAA	XP_005248582.1:n.350+12378_350+12379insAAA
XM_011543415.1:c.250+159_250+160insAAA	XP_011541717.1:n.250+159_250+160insAAA
NM_001318051.1:c.350+12378_350+12379insAAA	NP_001304980.1:n.350+12378_350+12379insAAA
NM_002495.3:c.424+159_424+160insAAA	NP_002486.1:n.424+159_424+160insAAA
NR_134473.1:n.626+159_626+160insAAA
NR_134474.1:n.543+159_543+160insAAA
NR_134475.1:n.578+159_578+160insAAA
NM_002495.4:c.424+159_424+160insAAA MANE Select	NP_002486.1:n.424+159_424+160insAAA
NM_001318051.2:c.350+12378_350+12379insAAA	NP_001304980.1:n.350+12378_350+12379insAAA
NR_134473.2:n.620+159_620+160insAAA
NR_134474.2:n.537+159_537+160insAAA
NR_134475.2:n.572+159_572+160insAAA