Canonical Allele Identifier: CA3264245

Gene: NDUFS4

Linked Data

• dbSNP Id: rs757508549
• ExAC: 5:52942087 C / T
• gnomAD v2: 5-52942087-C-T
• COSMIC: COSM5535295
• MyVariant Identifiers: chr5:g.52942087C>T (hg19) ; chr5:g.53646257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646257C>T , CM000667.2:g.53646257C>T	GRCh38
NC_000005.9:g.52942087C>T , CM000667.1:g.52942087C>T	GRCh37
NC_000005.8:g.52977844C>T	NCBI36
NG_008200.1:g.90623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.202C>T MANE Select	ENSP00000296684.5:p.Pro68Ser
ENST00000296684.9:c.202C>T	ENSP00000296684.5:p.Pro68Ser
ENST00000502423.5:c.*69C>T	ENSP00000422177.1:n.*69C>T
ENST00000506765.1:c.190C>T	ENSP00000424570.1:p.Pro64Ser
ENST00000506974.5:c.374C>T	ENSP00000425967.1:p.Ser125Phe
ENST00000507026.5:c.*176C>T	ENSP00000424993.1:n.*176C>T
ENST00000509443.1:n.63C>T
NM_002495.2:c.202C>T	NP_002486.1:p.Pro68Ser
XM_005248525.3:c.202C>T	XP_005248582.1:p.Pro68Ser
XM_011543415.1:c.28C>T	XP_011541717.1:p.Pro10Ser
NM_001318051.1:c.202C>T	NP_001304980.1:p.Pro68Ser
NM_002495.3:c.202C>T	NP_002486.1:p.Pro68Ser
NR_134473.1:n.404C>T
NR_134474.1:n.321C>T
NR_134475.1:n.356C>T
NM_002495.4:c.202C>T MANE Select	NP_002486.1:p.Pro68Ser
NM_001318051.2:c.202C>T	NP_001304980.1:p.Pro68Ser
NR_134473.2:n.398C>T
NR_134474.2:n.315C>T
NR_134475.2:n.350C>T