Canonical Allele Identifier: CA359719646

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942115T>G (hg19) ; chr5:g.53646285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646285T>G , CM000667.2:g.53646285T>G	GRCh38
NC_000005.9:g.52942115T>G , CM000667.1:g.52942115T>G	GRCh37
NC_000005.8:g.52977872T>G	NCBI36
NG_008200.1:g.90651T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.230T>G MANE Select	ENSP00000296684.5:p.Val77Gly
ENST00000296684.9:c.230T>G	ENSP00000296684.5:p.Val77Gly
ENST00000502423.5:c.*97T>G	ENSP00000422177.1:n.*97T>G
ENST00000506765.1:c.218T>G	ENSP00000424570.1:p.Val73Gly
ENST00000506974.5:c.*6T>G	ENSP00000425967.1:n.*6T>G
ENST00000507026.5:c.*204T>G	ENSP00000424993.1:n.*204T>G
ENST00000509443.1:n.91T>G
NM_002495.2:c.230T>G	NP_002486.1:p.Val77Gly
XM_005248525.3:c.230T>G	XP_005248582.1:p.Val77Gly
XM_011543415.1:c.56T>G	XP_011541717.1:p.Val19Gly
NM_001318051.1:c.230T>G	NP_001304980.1:p.Val77Gly
NM_002495.3:c.230T>G	NP_002486.1:p.Val77Gly
NR_134473.1:n.432T>G
NR_134474.1:n.349T>G
NR_134475.1:n.384T>G
NM_002495.4:c.230T>G MANE Select	NP_002486.1:p.Val77Gly
NM_001318051.2:c.230T>G	NP_001304980.1:p.Val77Gly
NR_134473.2:n.426T>G
NR_134474.2:n.343T>G
NR_134475.2:n.378T>G