Canonical Allele Identifier: CA3264258

Gene: NDUFS4

Linked Data

• dbSNP Id: rs752550580
• ExAC: 5:52942166 C / T
• gnomAD v2: 5-52942166-C-T
• MyVariant Identifiers: chr5:g.52942166C>T (hg19) ; chr5:g.53646336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646336C>T , CM000667.2:g.53646336C>T	GRCh38
NC_000005.9:g.52942166C>T , CM000667.1:g.52942166C>T	GRCh37
NC_000005.8:g.52977923C>T	NCBI36
NG_008200.1:g.90702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.281C>T MANE Select	ENSP00000296684.5:p.Thr94Ile
ENST00000296684.9:c.281C>T	ENSP00000296684.5:p.Thr94Ile
ENST00000502423.5:c.*148C>T	ENSP00000422177.1:n.*148C>T
ENST00000506765.1:c.269C>T	ENSP00000424570.1:p.Thr90Ile
ENST00000506974.5:c.*57C>T	ENSP00000425967.1:n.*57C>T
ENST00000507026.5:c.*255C>T	ENSP00000424993.1:n.*255C>T
ENST00000509443.1:n.142C>T
NM_002495.2:c.281C>T	NP_002486.1:p.Thr94Ile
XM_005248525.3:c.281C>T	XP_005248582.1:p.Thr94Ile
XM_011543415.1:c.107C>T	XP_011541717.1:p.Thr36Ile
NM_001318051.1:c.281C>T	NP_001304980.1:p.Thr94Ile
NM_002495.3:c.281C>T	NP_002486.1:p.Thr94Ile
NR_134473.1:n.483C>T
NR_134474.1:n.400C>T
NR_134475.1:n.435C>T
NM_002495.4:c.281C>T MANE Select	NP_002486.1:p.Thr94Ile
NM_001318051.2:c.281C>T	NP_001304980.1:p.Thr94Ile
NR_134473.2:n.477C>T
NR_134474.2:n.394C>T
NR_134475.2:n.429C>T