Canonical Allele Identifier: CA444330309

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646238-C-T
• MyVariant Identifiers: chr5:g.52942068C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646238C>T , CM000667.2:g.53646238C>T	GRCh38
NC_000005.9:g.52942068C>T , CM000667.1:g.52942068C>T	GRCh37
NC_000005.8:g.52977825C>T	NCBI36
NG_008200.1:g.90604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.183C>T MANE Select	ENSP00000296684.5:p.Ile61=
ENST00000296684.9:c.183C>T	ENSP00000296684.5:p.Ile61=
ENST00000502423.5:c.*50C>T	ENSP00000422177.1:n.*50C>T
ENST00000506765.1:c.171C>T	ENSP00000424570.1:p.Ile57=
ENST00000506974.5:c.355C>T	ENSP00000425967.1:p.His119Tyr
ENST00000507026.5:c.*157C>T	ENSP00000424993.1:n.*157C>T
ENST00000509443.1:n.44C>T
NM_002495.2:c.183C>T	NP_002486.1:p.Ile61=
XM_005248525.3:c.183C>T	XP_005248582.1:p.Ile61=
XM_011543415.1:c.9C>T	XP_011541717.1:p.Ile3=
NM_001318051.1:c.183C>T	NP_001304980.1:p.Ile61=
NM_002495.3:c.183C>T	NP_002486.1:p.Ile61=
NR_134473.1:n.385C>T
NR_134474.1:n.302C>T
NR_134475.1:n.337C>T
NM_002495.4:c.183C>T MANE Select	NP_002486.1:p.Ile61=
NM_001318051.2:c.183C>T	NP_001304980.1:p.Ile61=
NR_134473.2:n.379C>T
NR_134474.2:n.296C>T
NR_134475.2:n.331C>T