Canonical Allele Identifier: CA16618208

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 419348
• ClinVar RCV Id: RCV000478751
• dbSNP Id: rs1064793807

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560672_53560674delinsCTC , CM000667.2:g.53560672_53560674delinsCTC	GRCh38
NC_000005.9:g.52856502_52856504delinsCTC , CM000667.1:g.52856502_52856504delinsCTC	GRCh37
NC_000005.8:g.52892259_52892261delinsCTC	NCBI36
NG_008200.1:g.5038_5040delinsCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.10_12delinsCTC MANE Select	ENSP00000296684.5:p.Val4Leu
ENST00000296684.9:c.10_12delinsCTC	ENSP00000296684.5:p.Val4Leu
ENST00000502423.5:c.10_12delinsCTC	ENSP00000422177.1:p.Val4Leu
ENST00000506974.5:c.10_12delinsCTC	ENSP00000425967.1:p.Val4Leu
ENST00000507026.5:c.10_12delinsCTC	ENSP00000424993.1:p.Val4Leu
NM_002495.2:c.10_12delinsCTC	NP_002486.1:p.Val4Leu
XM_005248525.3:c.10_12delinsCTC	XP_005248582.1:p.Val4Leu
XM_011543414.1:c.10_12delinsCTC	XP_011541716.1:p.Val4Leu
NM_001318051.1:c.10_12delinsCTC	NP_001304980.1:p.Val4Leu
NM_002495.3:c.10_12delinsCTC	NP_002486.1:p.Val4Leu
NR_134473.1:n.40_42delinsCTC
NR_134474.1:n.40_42delinsCTC
NR_134475.1:n.40_42delinsCTC
XM_017009491.1:c.10_12delinsCTC	XP_016864980.1:p.Val4Leu
NM_002495.4:c.10_12delinsCTC MANE Select	NP_002486.1:p.Val4Leu
NM_001318051.2:c.10_12delinsCTC	NP_001304980.1:p.Val4Leu
NR_134473.2:n.34_36delinsCTC
NR_134474.2:n.34_36delinsCTC
NR_134475.2:n.34_36delinsCTC