Canonical Allele Identifier: CA444330331

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942101A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646271A>C , CM000667.2:g.53646271A>C	GRCh38
NC_000005.9:g.52942101A>C , CM000667.1:g.52942101A>C	GRCh37
NC_000005.8:g.52977858A>C	NCBI36
NG_008200.1:g.90637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.216A>C MANE Select	ENSP00000296684.5:p.Ile72=
ENST00000296684.9:c.216A>C	ENSP00000296684.5:p.Ile72=
ENST00000502423.5:c.*83A>C	ENSP00000422177.1:n.*83A>C
ENST00000506765.1:c.204A>C	ENSP00000424570.1:p.Ile68=
ENST00000506974.5:c.388A>C	ENSP00000425967.1:p.Lys130Gln
ENST00000507026.5:c.*190A>C	ENSP00000424993.1:n.*190A>C
ENST00000509443.1:n.77A>C
NM_002495.2:c.216A>C	NP_002486.1:p.Ile72=
XM_005248525.3:c.216A>C	XP_005248582.1:p.Ile72=
XM_011543415.1:c.42A>C	XP_011541717.1:p.Ile14=
NM_001318051.1:c.216A>C	NP_001304980.1:p.Ile72=
NM_002495.3:c.216A>C	NP_002486.1:p.Ile72=
NR_134473.1:n.418A>C
NR_134474.1:n.335A>C
NR_134475.1:n.370A>C
NM_002495.4:c.216A>C MANE Select	NP_002486.1:p.Ile72=
NM_001318051.2:c.216A>C	NP_001304980.1:p.Ile72=
NR_134473.2:n.412A>C
NR_134474.2:n.329A>C
NR_134475.2:n.364A>C