Canonical Allele Identifier: CA444330338

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942116C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646286C>A , CM000667.2:g.53646286C>A	GRCh38
NC_000005.9:g.52942116C>A , CM000667.1:g.52942116C>A	GRCh37
NC_000005.8:g.52977873C>A	NCBI36
NG_008200.1:g.90652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.231C>A MANE Select	ENSP00000296684.5:p.Val77=
ENST00000296684.9:c.231C>A	ENSP00000296684.5:p.Val77=
ENST00000502423.5:c.*98C>A	ENSP00000422177.1:n.*98C>A
ENST00000506765.1:c.219C>A	ENSP00000424570.1:p.Val73=
ENST00000506974.5:c.*7C>A	ENSP00000425967.1:n.*7C>A
ENST00000507026.5:c.*205C>A	ENSP00000424993.1:n.*205C>A
ENST00000509443.1:n.92C>A
NM_002495.2:c.231C>A	NP_002486.1:p.Val77=
XM_005248525.3:c.231C>A	XP_005248582.1:p.Val77=
XM_011543415.1:c.57C>A	XP_011541717.1:p.Val19=
NM_001318051.1:c.231C>A	NP_001304980.1:p.Val77=
NM_002495.3:c.231C>A	NP_002486.1:p.Val77=
NR_134473.1:n.433C>A
NR_134474.1:n.350C>A
NR_134475.1:n.385C>A
NM_002495.4:c.231C>A MANE Select	NP_002486.1:p.Val77=
NM_001318051.2:c.231C>A	NP_001304980.1:p.Val77=
NR_134473.2:n.427C>A
NR_134474.2:n.344C>A
NR_134475.2:n.379C>A