Canonical Allele Identifier: CA325091
Gene: NDUFS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 214810
dbSNP Id: rs185711494
gnomAD v2: 5-52856502-G-C
gnomAD v3: 5-53560672-G-C
gnomAD v4: 5-53560672-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53560672G>C , CM000667.2:g.53560672G>C GRCh38
NC_000005.9:g.52856502G>C , CM000667.1:g.52856502G>C GRCh37
NC_000005.8:g.52892259G>C NCBI36
NG_008200.1:g.5038G>C

Transcript Alleles

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