Canonical Allele Identifier: CA3264249

Gene: NDUFS4

Linked Data

• dbSNP Id: rs766855689
• ExAC: 5:52942102 A / C
• gnomAD v2: 5-52942102-A-C
• gnomAD v4: 5-53646272-A-C
• MyVariant Identifiers: chr5:g.52942102A>C (hg19) ; chr5:g.53646272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646272A>C , CM000667.2:g.53646272A>C	GRCh38
NC_000005.9:g.52942102A>C , CM000667.1:g.52942102A>C	GRCh37
NC_000005.8:g.52977859A>C	NCBI36
NG_008200.1:g.90638A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.217A>C MANE Select	ENSP00000296684.5:p.Lys73Gln
ENST00000296684.9:c.217A>C	ENSP00000296684.5:p.Lys73Gln
ENST00000502423.5:c.*84A>C	ENSP00000422177.1:n.*84A>C
ENST00000506765.1:c.205A>C	ENSP00000424570.1:p.Lys69Gln
ENST00000506974.5:c.389A>C	ENSP00000425967.1:p.Lys130Thr
ENST00000507026.5:c.*191A>C	ENSP00000424993.1:n.*191A>C
ENST00000509443.1:n.78A>C
NM_002495.2:c.217A>C	NP_002486.1:p.Lys73Gln
XM_005248525.3:c.217A>C	XP_005248582.1:p.Lys73Gln
XM_011543415.1:c.43A>C	XP_011541717.1:p.Lys15Gln
NM_001318051.1:c.217A>C	NP_001304980.1:p.Lys73Gln
NM_002495.3:c.217A>C	NP_002486.1:p.Lys73Gln
NR_134473.1:n.419A>C
NR_134474.1:n.336A>C
NR_134475.1:n.371A>C
NM_002495.4:c.217A>C MANE Select	NP_002486.1:p.Lys73Gln
NM_001318051.2:c.217A>C	NP_001304980.1:p.Lys73Gln
NR_134473.2:n.413A>C
NR_134474.2:n.330A>C
NR_134475.2:n.365A>C