Canonical Allele Identifier: CA359719573

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646251-G-T
• MyVariant Identifiers: chr5:g.52942081G>T (hg19) ; chr5:g.53646251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646251G>T , CM000667.2:g.53646251G>T	GRCh38
NC_000005.9:g.52942081G>T , CM000667.1:g.52942081G>T	GRCh37
NC_000005.8:g.52977838G>T	NCBI36
NG_008200.1:g.90617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.196G>T MANE Select	ENSP00000296684.5:p.Gly66Ter
ENST00000296684.9:c.196G>T	ENSP00000296684.5:p.Gly66Ter
ENST00000502423.5:c.*63G>T	ENSP00000422177.1:n.*63G>T
ENST00000506765.1:c.184G>T	ENSP00000424570.1:p.Gly62Ter
ENST00000506974.5:c.368G>T	ENSP00000425967.1:p.Trp123Leu
ENST00000507026.5:c.*170G>T	ENSP00000424993.1:n.*170G>T
ENST00000509443.1:n.57G>T
NM_002495.2:c.196G>T	NP_002486.1:p.Gly66Ter
XM_005248525.3:c.196G>T	XP_005248582.1:p.Gly66Ter
XM_011543415.1:c.22G>T	XP_011541717.1:p.Gly8Ter
NM_001318051.1:c.196G>T	NP_001304980.1:p.Gly66Ter
NM_002495.3:c.196G>T	NP_002486.1:p.Gly66Ter
NR_134473.1:n.398G>T
NR_134474.1:n.315G>T
NR_134475.1:n.350G>T
NM_002495.4:c.196G>T MANE Select	NP_002486.1:p.Gly66Ter
NM_001318051.2:c.196G>T	NP_001304980.1:p.Gly66Ter
NR_134473.2:n.392G>T
NR_134474.2:n.309G>T
NR_134475.2:n.344G>T