Canonical Allele Identifier: CA812058917

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1488315613
• gnomAD v3: 5-53658436-A-G
• gnomAD v4: 5-53658436-A-G
• MyVariant Identifiers: chr5:g.52954266A>G (hg19) ; chr5:g.53658436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658436A>G , CM000667.2:g.53658436A>G	GRCh38
NC_000005.9:g.52954266A>G , CM000667.1:g.52954266A>G	GRCh37
NC_000005.8:g.52990023A>G	NCBI36
NG_008200.1:g.102802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-115A>G MANE Select	ENSP00000296684.5:n.351-115A>G
ENST00000296684.9:c.351-115A>G	ENSP00000296684.5:n.351-115A>G
ENST00000502423.5:c.*218-115A>G	ENSP00000422177.1:n.*218-115A>G
ENST00000506765.1:c.338+12031A>G	ENSP00000424570.1:n.338+12031A>G
ENST00000506974.5:c.*127-115A>G	ENSP00000425967.1:n.*127-115A>G
ENST00000507026.5:c.*325-115A>G	ENSP00000424993.1:n.*325-115A>G
ENST00000509443.1:n.212-115A>G
NM_002495.2:c.351-115A>G	NP_002486.1:n.351-115A>G
XM_005248525.3:c.350+12031A>G	XP_005248582.1:n.350+12031A>G
XM_011543415.1:c.177-115A>G	XP_011541717.1:n.177-115A>G
NM_001318051.1:c.350+12031A>G	NP_001304980.1:n.350+12031A>G
NM_002495.3:c.351-115A>G	NP_002486.1:n.351-115A>G
NR_134473.1:n.553-115A>G
NR_134474.1:n.470-115A>G
NR_134475.1:n.505-115A>G
NM_002495.4:c.351-115A>G MANE Select	NP_002486.1:n.351-115A>G
NM_001318051.2:c.350+12031A>G	NP_001304980.1:n.350+12031A>G
NR_134473.2:n.547-115A>G
NR_134474.2:n.464-115A>G
NR_134475.2:n.499-115A>G