Canonical Allele Identifier: CA1076121420

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1752225302
• gnomAD v3: 5-53658419-AT-A
• gnomAD v4: 5-53658419-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658421del , CM000667.2:g.53658421del	GRCh38
NC_000005.9:g.52954251del , CM000667.1:g.52954251del	GRCh37
NC_000005.8:g.52990008del	NCBI36
NG_008200.1:g.102787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-130del MANE Select	ENSP00000296684.5:n.351-130del
ENST00000296684.9:c.351-130del	ENSP00000296684.5:n.351-130del
ENST00000502423.5:c.*218-130del	ENSP00000422177.1:n.*218-130del
ENST00000506765.1:c.338+12016del	ENSP00000424570.1:n.338+12016del
ENST00000506974.5:c.*127-130del	ENSP00000425967.1:n.*127-130del
ENST00000507026.5:c.*325-130del	ENSP00000424993.1:n.*325-130del
ENST00000509443.1:n.212-130del
NM_002495.2:c.351-130del	NP_002486.1:n.351-130del
XM_005248525.3:c.350+12016del	XP_005248582.1:n.350+12016del
XM_011543415.1:c.177-130del	XP_011541717.1:n.177-130del
NM_001318051.1:c.350+12016del	NP_001304980.1:n.350+12016del
NM_002495.3:c.351-130del	NP_002486.1:n.351-130del
NR_134473.1:n.553-130del
NR_134474.1:n.470-130del
NR_134475.1:n.505-130del
NM_002495.4:c.351-130del MANE Select	NP_002486.1:n.351-130del
NM_001318051.2:c.350+12016del	NP_001304980.1:n.350+12016del
NR_134473.2:n.547-130del
NR_134474.2:n.464-130del
NR_134475.2:n.499-130del