Canonical Allele Identifier: CA359719585

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1199361122
• gnomAD v2: 5-52942088-C-T
• gnomAD v4: 5-53646258-C-T
• MyVariant Identifiers: chr5:g.52942088C>T (hg19) ; chr5:g.53646258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646258C>T , CM000667.2:g.53646258C>T	GRCh38
NC_000005.9:g.52942088C>T , CM000667.1:g.52942088C>T	GRCh37
NC_000005.8:g.52977845C>T	NCBI36
NG_008200.1:g.90624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.203C>T MANE Select	ENSP00000296684.5:p.Pro68Leu
ENST00000296684.9:c.203C>T	ENSP00000296684.5:p.Pro68Leu
ENST00000502423.5:c.*70C>T	ENSP00000422177.1:n.*70C>T
ENST00000506765.1:c.191C>T	ENSP00000424570.1:p.Pro64Leu
ENST00000506974.5:c.375C>T	ENSP00000425967.1:p.Ser125=
ENST00000507026.5:c.*177C>T	ENSP00000424993.1:n.*177C>T
ENST00000509443.1:n.64C>T
NM_002495.2:c.203C>T	NP_002486.1:p.Pro68Leu
XM_005248525.3:c.203C>T	XP_005248582.1:p.Pro68Leu
XM_011543415.1:c.29C>T	XP_011541717.1:p.Pro10Leu
NM_001318051.1:c.203C>T	NP_001304980.1:p.Pro68Leu
NM_002495.3:c.203C>T	NP_002486.1:p.Pro68Leu
NR_134473.1:n.405C>T
NR_134474.1:n.322C>T
NR_134475.1:n.357C>T
NM_002495.4:c.203C>T MANE Select	NP_002486.1:p.Pro68Leu
NM_001318051.2:c.203C>T	NP_001304980.1:p.Pro68Leu
NR_134473.2:n.399C>T
NR_134474.2:n.316C>T
NR_134475.2:n.351C>T