Canonical Allele Identifier: CA323966

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 214812
• ClinVar RCV Id: RCV000199422
• dbSNP Id: rs761800077
• ExAC: 5:52954419 C / G
• gnomAD v2: 5-52954419-C-G
• gnomAD v4: 5-53658589-C-G
• MyVariant Identifiers: chr5:g.52954419C>G (hg19) ; chr5:g.53658589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658589C>G , CM000667.2:g.53658589C>G	GRCh38
NC_000005.9:g.52954419C>G , CM000667.1:g.52954419C>G	GRCh37
NC_000005.8:g.52990176C>G	NCBI36
NG_008200.1:g.102955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.389C>G MANE Select	ENSP00000296684.5:p.Thr130Ser
ENST00000296684.9:c.389C>G	ENSP00000296684.5:p.Thr130Ser
ENST00000502423.5:c.*256C>G	ENSP00000422177.1:n.*256C>G
ENST00000506765.1:c.338+12184C>G	ENSP00000424570.1:n.338+12184C>G
ENST00000506974.5:c.*165C>G	ENSP00000425967.1:n.*165C>G
ENST00000507026.5:c.*363C>G	ENSP00000424993.1:n.*363C>G
ENST00000509443.1:n.250C>G
NM_002495.2:c.389C>G	NP_002486.1:p.Thr130Ser
XM_005248525.3:c.350+12184C>G	XP_005248582.1:n.350+12184C>G
XM_011543415.1:c.215C>G	XP_011541717.1:p.Thr72Ser
NM_001318051.1:c.350+12184C>G	NP_001304980.1:n.350+12184C>G
NM_002495.3:c.389C>G	NP_002486.1:p.Thr130Ser
NR_134473.1:n.591C>G
NR_134474.1:n.508C>G
NR_134475.1:n.543C>G
NM_002495.4:c.389C>G MANE Select	NP_002486.1:p.Thr130Ser
NM_001318051.2:c.350+12184C>G	NP_001304980.1:n.350+12184C>G
NR_134473.2:n.585C>G
NR_134474.2:n.502C>G
NR_134475.2:n.537C>G