Canonical Allele Identifier: CA3264229

Gene: NDUFS4

Linked Data

• dbSNP Id: rs763027449
• ExAC: 5:52942038 GT / G
• gnomAD v2: 5-52942038-GT-G
• gnomAD v3: 5-53646208-GT-G
• gnomAD v4: 5-53646208-GT-G
• MyVariant Identifiers: chr5:g.52942042del (hg19) ; chr5:g.52942039del (hg19) ; chr5:g.53646212del (hg38) ; chr5:g.53646209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646217del , CM000667.2:g.53646217del	GRCh38
NC_000005.9:g.52942047del , CM000667.1:g.52942047del	GRCh37
NC_000005.8:g.52977804del	NCBI36
NG_008200.1:g.90583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-16del MANE Select	ENSP00000296684.5:n.178-16del
ENST00000296684.9:c.178-16del	ENSP00000296684.5:n.178-16del
ENST00000502423.5:c.*45-16del	ENSP00000422177.1:n.*45-16del
ENST00000506765.1:c.166-16del	ENSP00000424570.1:n.166-16del
ENST00000506974.5:c.350-16del	ENSP00000425967.1:n.350-16del
ENST00000507026.5:c.*152-16del	ENSP00000424993.1:n.*152-16del
ENST00000509443.1:n.23del
NM_002495.2:c.178-16del	NP_002486.1:n.178-16del
XM_005248525.3:c.178-16del	XP_005248582.1:n.178-16del
XM_011543415.1:c.4-16del	XP_011541717.1:n.4-16del
NM_001318051.1:c.178-16del	NP_001304980.1:n.178-16del
NM_002495.3:c.178-16del	NP_002486.1:n.178-16del
NR_134473.1:n.380-16del
NR_134474.1:n.297-16del
NR_134475.1:n.332-16del
NM_002495.4:c.178-16del MANE Select	NP_002486.1:n.178-16del
NM_001318051.2:c.178-16del	NP_001304980.1:n.178-16del
NR_134473.2:n.374-16del
NR_134474.2:n.291-16del
NR_134475.2:n.326-16del