Canonical Allele Identifier: CA359719763

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1751862843
• gnomAD v3: 5-53646340-G-T
• gnomAD v4: 5-53646340-G-T
• MyVariant Identifiers: chr5:g.52942170G>T (hg19) ; chr5:g.53646340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646340G>T , CM000667.2:g.53646340G>T	GRCh38
NC_000005.9:g.52942170G>T , CM000667.1:g.52942170G>T	GRCh37
NC_000005.8:g.52977927G>T	NCBI36
NG_008200.1:g.90706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.285G>T MANE Select	ENSP00000296684.5:p.Lys95Asn
ENST00000296684.9:c.285G>T	ENSP00000296684.5:p.Lys95Asn
ENST00000502423.5:c.*152G>T	ENSP00000422177.1:n.*152G>T
ENST00000506765.1:c.273G>T	ENSP00000424570.1:p.Lys91Asn
ENST00000506974.5:c.*61G>T	ENSP00000425967.1:n.*61G>T
ENST00000507026.5:c.*259G>T	ENSP00000424993.1:n.*259G>T
ENST00000509443.1:n.146G>T
NM_002495.2:c.285G>T	NP_002486.1:p.Lys95Asn
XM_005248525.3:c.285G>T	XP_005248582.1:p.Lys95Asn
XM_011543415.1:c.111G>T	XP_011541717.1:p.Lys37Asn
NM_001318051.1:c.285G>T	NP_001304980.1:p.Lys95Asn
NM_002495.3:c.285G>T	NP_002486.1:p.Lys95Asn
NR_134473.1:n.487G>T
NR_134474.1:n.404G>T
NR_134475.1:n.439G>T
NM_002495.4:c.285G>T MANE Select	NP_002486.1:p.Lys95Asn
NM_001318051.2:c.285G>T	NP_001304980.1:p.Lys95Asn
NR_134473.2:n.481G>T
NR_134474.2:n.398G>T
NR_134475.2:n.433G>T