Canonical Allele Identifier: CA119136917

Gene: NDUFS4

Linked Data

• dbSNP Id: rs375212224
• gnomAD v3: 5-53658588-A-G
• gnomAD v4: 5-53658588-A-G
• MyVariant Identifiers: chr5:g.52954418A>G (hg19) ; chr5:g.53658588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658588A>G , CM000667.2:g.53658588A>G	GRCh38
NC_000005.9:g.52954418A>G , CM000667.1:g.52954418A>G	GRCh37
NC_000005.8:g.52990175A>G	NCBI36
NG_008200.1:g.102954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.388A>G MANE Select	ENSP00000296684.5:p.Thr130Ala
ENST00000296684.9:c.388A>G	ENSP00000296684.5:p.Thr130Ala
ENST00000502423.5:c.*255A>G	ENSP00000422177.1:n.*255A>G
ENST00000506765.1:c.338+12183A>G	ENSP00000424570.1:n.338+12183A>G
ENST00000506974.5:c.*164A>G	ENSP00000425967.1:n.*164A>G
ENST00000507026.5:c.*362A>G	ENSP00000424993.1:n.*362A>G
ENST00000509443.1:n.249A>G
NM_002495.2:c.388A>G	NP_002486.1:p.Thr130Ala
XM_005248525.3:c.350+12183A>G	XP_005248582.1:n.350+12183A>G
XM_011543415.1:c.214A>G	XP_011541717.1:p.Thr72Ala
NM_001318051.1:c.350+12183A>G	NP_001304980.1:n.350+12183A>G
NM_002495.3:c.388A>G	NP_002486.1:p.Thr130Ala
NR_134473.1:n.590A>G
NR_134474.1:n.507A>G
NR_134475.1:n.542A>G
NM_002495.4:c.388A>G MANE Select	NP_002486.1:p.Thr130Ala
NM_001318051.2:c.350+12183A>G	NP_001304980.1:n.350+12183A>G
NR_134473.2:n.584A>G
NR_134474.2:n.501A>G
NR_134475.2:n.536A>G