Canonical Allele Identifier: CA444329882

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1323319971
• gnomAD v2: 5-52954445-GA-G
• gnomAD v4: 5-53658615-GA-G
• COSMIC: COSM313175
• MyVariant Identifiers: chr5:g.52954446del (hg19) ; chr5:g.53658616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658622del , CM000667.2:g.53658622del	GRCh38
NC_000005.9:g.52954452del , CM000667.1:g.52954452del	GRCh37
NC_000005.8:g.52990209del	NCBI36
NG_008200.1:g.102988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.422del MANE Select	ENSP00000296684.5:p.Asn141MetfsTer?
ENST00000296684.9:c.422del	ENSP00000296684.5:p.Asn141MetfsTer?
ENST00000502423.5:c.*289del	ENSP00000422177.1:n.*289del
ENST00000506765.1:c.338+12217del	ENSP00000424570.1:n.338+12217del
ENST00000506974.5:c.*198del	ENSP00000425967.1:n.*198del
ENST00000507026.5:c.*396del	ENSP00000424993.1:n.*396del
ENST00000509443.1:n.283del
NM_002495.2:c.422del	NP_002486.1:p.Asn141MetfsTer?
XM_005248525.3:c.350+12217del	XP_005248582.1:n.350+12217del
XM_011543415.1:c.248del	XP_011541717.1:p.Asn83MetfsTer?
NM_001318051.1:c.350+12217del	NP_001304980.1:n.350+12217del
NM_002495.3:c.422del	NP_002486.1:p.Asn141MetfsTer?
NR_134473.1:n.624del
NR_134474.1:n.541del
NR_134475.1:n.576del
NM_002495.4:c.422del MANE Select	NP_002486.1:p.Asn141MetfsTer?
NM_001318051.2:c.350+12217del	NP_001304980.1:n.350+12217del
NR_134473.2:n.618del
NR_134474.2:n.535del
NR_134475.2:n.570del