Canonical Allele Identifier: CA119136923

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1056914549
• gnomAD v4: 5-53658694-T-G
• MyVariant Identifiers: chr5:g.52954524T>G (hg19) ; chr5:g.53658694T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658694T>G , CM000667.2:g.53658694T>G	GRCh38
NC_000005.9:g.52954524T>G , CM000667.1:g.52954524T>G	GRCh37
NC_000005.8:g.52990281T>G	NCBI36
NG_008200.1:g.103060T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+70T>G MANE Select	ENSP00000296684.5:n.424+70T>G
ENST00000296684.9:c.424+70T>G	ENSP00000296684.5:n.424+70T>G
ENST00000502423.5:c.*291+70T>G	ENSP00000422177.1:n.*291+70T>G
ENST00000506765.1:c.338+12289T>G	ENSP00000424570.1:n.338+12289T>G
ENST00000506974.5:c.*200+70T>G	ENSP00000425967.1:n.*200+70T>G
ENST00000507026.5:c.*398+70T>G	ENSP00000424993.1:n.*398+70T>G
ENST00000509443.1:n.355T>G
NM_002495.2:c.424+70T>G	NP_002486.1:n.424+70T>G
XM_005248525.3:c.350+12289T>G	XP_005248582.1:n.350+12289T>G
XM_011543415.1:c.250+70T>G	XP_011541717.1:n.250+70T>G
NM_001318051.1:c.350+12289T>G	NP_001304980.1:n.350+12289T>G
NM_002495.3:c.424+70T>G	NP_002486.1:n.424+70T>G
NR_134473.1:n.626+70T>G
NR_134474.1:n.543+70T>G
NR_134475.1:n.578+70T>G
NM_002495.4:c.424+70T>G MANE Select	NP_002486.1:n.424+70T>G
NM_001318051.2:c.350+12289T>G	NP_001304980.1:n.350+12289T>G
NR_134473.2:n.620+70T>G
NR_134474.2:n.537+70T>G
NR_134475.2:n.572+70T>G