Canonical Allele Identifier: CA3264255

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2563492
• ClinVar RCV Id: RCV003301653
• dbSNP Id: rs758952048
• ExAC: 5:52942144 A / G
• gnomAD v2: 5-52942144-A-G
• gnomAD v3: 5-53646314-A-G
• gnomAD v4: 5-53646314-A-G
• MyVariant Identifiers: chr5:g.52942144A>G (hg19) ; chr5:g.53646314A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646314A>G , CM000667.2:g.53646314A>G	GRCh38
NC_000005.9:g.52942144A>G , CM000667.1:g.52942144A>G	GRCh37
NC_000005.8:g.52977901A>G	NCBI36
NG_008200.1:g.90680A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.259A>G MANE Select	ENSP00000296684.5:p.Met87Val
ENST00000296684.9:c.259A>G	ENSP00000296684.5:p.Met87Val
ENST00000502423.5:c.*126A>G	ENSP00000422177.1:n.*126A>G
ENST00000506765.1:c.247A>G	ENSP00000424570.1:p.Met83Val
ENST00000506974.5:c.*35A>G	ENSP00000425967.1:n.*35A>G
ENST00000507026.5:c.*233A>G	ENSP00000424993.1:n.*233A>G
ENST00000509443.1:n.120A>G
NM_002495.2:c.259A>G	NP_002486.1:p.Met87Val
XM_005248525.3:c.259A>G	XP_005248582.1:p.Met87Val
XM_011543415.1:c.85A>G	XP_011541717.1:p.Met29Val
NM_001318051.1:c.259A>G	NP_001304980.1:p.Met87Val
NM_002495.3:c.259A>G	NP_002486.1:p.Met87Val
NR_134473.1:n.461A>G
NR_134474.1:n.378A>G
NR_134475.1:n.413A>G
NM_002495.4:c.259A>G MANE Select	NP_002486.1:p.Met87Val
NM_001318051.2:c.259A>G	NP_001304980.1:p.Met87Val
NR_134473.2:n.455A>G
NR_134474.2:n.372A>G
NR_134475.2:n.407A>G