Canonical Allele Identifier: CA3264288

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 353890
• ClinVar RCV Id: RCV001712152
• dbSNP Id: rs375549253
• ExAC: 5:52954366 ATTTG / A
• gnomAD v2: 5-52954366-ATTTG-A
• gnomAD v3: 5-53658536-ATTTG-A
• gnomAD v4: 5-53658536-ATTTG-A
• MyVariant Identifiers: chr5:g.52954370_52954373del (hg19) ; chr5:g.52954367_52954370del (hg19) ; chr5:g.53658540_53658543del (hg38) ; chr5:g.53658538_53658541del (hg38) ; chr5:g.53658537_53658540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658540_53658543del , CM000667.2:g.53658540_53658543del	GRCh38
NC_000005.9:g.52954370_52954373del , CM000667.1:g.52954370_52954373del	GRCh37
NC_000005.8:g.52990127_52990130del	NCBI36
NG_008200.1:g.102906_102909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.351-11_351-8del MANE Select	ENSP00000296684.5:n.351-11_351-8del
ENST00000296684.9:c.351-11_351-8del	ENSP00000296684.5:n.351-11_351-8del
ENST00000502423.5:c.*218-11_*218-8del	ENSP00000422177.1:n.*218-11_*218-8del
ENST00000506765.1:c.338+12135_338+12138del	ENSP00000424570.1:n.338+12135_338+12138de...
ENST00000506974.5:c.*127-11_*127-8del	ENSP00000425967.1:n.*127-11_*127-8del
ENST00000507026.5:c.*325-11_*325-8del	ENSP00000424993.1:n.*325-11_*325-8del
ENST00000509443.1:n.212-11_212-8del
NM_002495.2:c.351-11_351-8del	NP_002486.1:n.351-11_351-8del
XM_005248525.3:c.350+12135_350+12138del	XP_005248582.1:n.350+12135_350+12138del
XM_011543415.1:c.177-11_177-8del	XP_011541717.1:n.177-11_177-8del
NM_001318051.1:c.350+12135_350+12138del	NP_001304980.1:n.350+12135_350+12138del
NM_002495.3:c.351-11_351-8del	NP_002486.1:n.351-11_351-8del
NR_134473.1:n.553-11_553-8del
NR_134474.1:n.470-11_470-8del
NR_134475.1:n.505-11_505-8del
NM_002495.4:c.351-11_351-8del MANE Select	NP_002486.1:n.351-11_351-8del
NM_001318051.2:c.350+12135_350+12138del	NP_001304980.1:n.350+12135_350+12138del
NR_134473.2:n.547-11_547-8del
NR_134474.2:n.464-11_464-8del
NR_134475.2:n.499-11_499-8del