Canonical Allele Identifier: CA359719680

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646300-C-T
• MyVariant Identifiers: chr5:g.52942130C>T (hg19) ; chr5:g.53646300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646300C>T , CM000667.2:g.53646300C>T	GRCh38
NC_000005.9:g.52942130C>T , CM000667.1:g.52942130C>T	GRCh37
NC_000005.8:g.52977887C>T	NCBI36
NG_008200.1:g.90666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.245C>T MANE Select	ENSP00000296684.5:p.Pro82Leu
ENST00000296684.9:c.245C>T	ENSP00000296684.5:p.Pro82Leu
ENST00000502423.5:c.*112C>T	ENSP00000422177.1:n.*112C>T
ENST00000506765.1:c.233C>T	ENSP00000424570.1:p.Pro78Leu
ENST00000506974.5:c.*21C>T	ENSP00000425967.1:n.*21C>T
ENST00000507026.5:c.*219C>T	ENSP00000424993.1:n.*219C>T
ENST00000509443.1:n.106C>T
NM_002495.2:c.245C>T	NP_002486.1:p.Pro82Leu
XM_005248525.3:c.245C>T	XP_005248582.1:p.Pro82Leu
XM_011543415.1:c.71C>T	XP_011541717.1:p.Pro24Leu
NM_001318051.1:c.245C>T	NP_001304980.1:p.Pro82Leu
NM_002495.3:c.245C>T	NP_002486.1:p.Pro82Leu
NR_134473.1:n.447C>T
NR_134474.1:n.364C>T
NR_134475.1:n.399C>T
NM_002495.4:c.245C>T MANE Select	NP_002486.1:p.Pro82Leu
NM_001318051.2:c.245C>T	NP_001304980.1:p.Pro82Leu
NR_134473.2:n.441C>T
NR_134474.2:n.358C>T
NR_134475.2:n.393C>T