Canonical Allele Identifier: CA359719552

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646240-C-T
• MyVariant Identifiers: chr5:g.52942070C>T (hg19) ; chr5:g.53646240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646240C>T , CM000667.2:g.53646240C>T	GRCh38
NC_000005.9:g.52942070C>T , CM000667.1:g.52942070C>T	GRCh37
NC_000005.8:g.52977827C>T	NCBI36
NG_008200.1:g.90606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.185C>T MANE Select	ENSP00000296684.5:p.Thr62Ile
ENST00000296684.9:c.185C>T	ENSP00000296684.5:p.Thr62Ile
ENST00000502423.5:c.*52C>T	ENSP00000422177.1:n.*52C>T
ENST00000506765.1:c.173C>T	ENSP00000424570.1:p.Thr58Ile
ENST00000506974.5:c.357C>T	ENSP00000425967.1:p.His119=
ENST00000507026.5:c.*159C>T	ENSP00000424993.1:n.*159C>T
ENST00000509443.1:n.46C>T
NM_002495.2:c.185C>T	NP_002486.1:p.Thr62Ile
XM_005248525.3:c.185C>T	XP_005248582.1:p.Thr62Ile
XM_011543415.1:c.11C>T	XP_011541717.1:p.Thr4Ile
NM_001318051.1:c.185C>T	NP_001304980.1:p.Thr62Ile
NM_002495.3:c.185C>T	NP_002486.1:p.Thr62Ile
NR_134473.1:n.387C>T
NR_134474.1:n.304C>T
NR_134475.1:n.339C>T
NM_002495.4:c.185C>T MANE Select	NP_002486.1:p.Thr62Ile
NM_001318051.2:c.185C>T	NP_001304980.1:p.Thr62Ile
NR_134473.2:n.381C>T
NR_134474.2:n.298C>T
NR_134475.2:n.333C>T