Canonical Allele Identifier: CA359719662

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646293-T-C
• MyVariant Identifiers: chr5:g.52942123T>C (hg19) ; chr5:g.53646293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646293T>C , CM000667.2:g.53646293T>C	GRCh38
NC_000005.9:g.52942123T>C , CM000667.1:g.52942123T>C	GRCh37
NC_000005.8:g.52977880T>C	NCBI36
NG_008200.1:g.90659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.238T>C MANE Select	ENSP00000296684.5:p.Phe80Leu
ENST00000296684.9:c.238T>C	ENSP00000296684.5:p.Phe80Leu
ENST00000502423.5:c.*105T>C	ENSP00000422177.1:n.*105T>C
ENST00000506765.1:c.226T>C	ENSP00000424570.1:p.Phe76Leu
ENST00000506974.5:c.*14T>C	ENSP00000425967.1:n.*14T>C
ENST00000507026.5:c.*212T>C	ENSP00000424993.1:n.*212T>C
ENST00000509443.1:n.99T>C
NM_002495.2:c.238T>C	NP_002486.1:p.Phe80Leu
XM_005248525.3:c.238T>C	XP_005248582.1:p.Phe80Leu
XM_011543415.1:c.64T>C	XP_011541717.1:p.Phe22Leu
NM_001318051.1:c.238T>C	NP_001304980.1:p.Phe80Leu
NM_002495.3:c.238T>C	NP_002486.1:p.Phe80Leu
NR_134473.1:n.440T>C
NR_134474.1:n.357T>C
NR_134475.1:n.392T>C
NM_002495.4:c.238T>C MANE Select	NP_002486.1:p.Phe80Leu
NM_001318051.2:c.238T>C	NP_001304980.1:p.Phe80Leu
NR_134473.2:n.434T>C
NR_134474.2:n.351T>C
NR_134475.2:n.386T>C