Canonical Allele Identifier: CA3264179

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 496165
• ClinVar RCV Id: RCV000007294 ; RCV000588112 ; RCV003558447
• dbSNP Id: rs376281345
• ExAC: 5:52899281 G / A
• gnomAD v2: 5-52899281-G-A
• gnomAD v3: 5-53603451-G-A
• gnomAD v4: 5-53603451-G-A
• MyVariant Identifiers: chr5:g.52899281G>A (hg19) ; chr5:g.53603451G>A (hg38)
• PubMed: PMID:12616398 ; PMID:19107570 ; PMID:20818383

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53603451G>A , CM000667.2:g.53603451G>A	GRCh38
NC_000005.9:g.52899281G>A , CM000667.1:g.52899281G>A	GRCh37
NC_000005.8:g.52935038G>A	NCBI36
NG_008200.1:g.47817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.99-1G>A MANE Select	ENSP00000296684.5:n.99-1G>A
ENST00000296684.9:c.99-1G>A	ENSP00000296684.5:n.99-1G>A
ENST00000502423.5:c.99-1G>A	ENSP00000422177.1:n.99-1G>A
ENST00000506765.1:c.87-1G>A	ENSP00000424570.1:n.87-1G>A
ENST00000506974.5:c.99-1G>A	ENSP00000425967.1:n.99-1G>A
ENST00000507026.5:c.*73-1G>A	ENSP00000424993.1:n.*73-1G>A
NM_002495.2:c.99-1G>A	NP_002486.1:n.99-1G>A
XM_005248525.3:c.99-1G>A	XP_005248582.1:n.99-1G>A
XM_011543414.1:c.99-1G>A	XP_011541716.1:n.99-1G>A
XM_011543415.1:c.-249G>A	XP_011541717.1:n.-249G>A
NM_001318051.1:c.99-1G>A	NP_001304980.1:n.99-1G>A
NM_002495.3:c.99-1G>A	NP_002486.1:n.99-1G>A
NR_134473.1:n.129-1G>A
NR_134474.1:n.129-1G>A
NR_134475.1:n.253-1G>A
XM_017009491.1:c.99-1G>A	XP_016864980.1:n.99-1G>A
NM_002495.4:c.99-1G>A MANE Select	NP_002486.1:n.99-1G>A
NM_001318051.2:c.99-1G>A	NP_001304980.1:n.99-1G>A
NR_134473.2:n.123-1G>A
NR_134474.2:n.123-1G>A
NR_134475.2:n.247-1G>A