Canonical Allele Identifier: CA444330330

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646268-T-C
• MyVariant Identifiers: chr5:g.52942098T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646268T>C , CM000667.2:g.53646268T>C	GRCh38
NC_000005.9:g.52942098T>C , CM000667.1:g.52942098T>C	GRCh37
NC_000005.8:g.52977855T>C	NCBI36
NG_008200.1:g.90634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.213T>C MANE Select	ENSP00000296684.5:p.His71=
ENST00000296684.9:c.213T>C	ENSP00000296684.5:p.His71=
ENST00000502423.5:c.*80T>C	ENSP00000422177.1:n.*80T>C
ENST00000506765.1:c.201T>C	ENSP00000424570.1:p.His67=
ENST00000506974.5:c.385T>C	ENSP00000425967.1:p.Tyr129His
ENST00000507026.5:c.*187T>C	ENSP00000424993.1:n.*187T>C
ENST00000509443.1:n.74T>C
NM_002495.2:c.213T>C	NP_002486.1:p.His71=
XM_005248525.3:c.213T>C	XP_005248582.1:p.His71=
XM_011543415.1:c.39T>C	XP_011541717.1:p.His13=
NM_001318051.1:c.213T>C	NP_001304980.1:p.His71=
NM_002495.3:c.213T>C	NP_002486.1:p.His71=
NR_134473.1:n.415T>C
NR_134474.1:n.332T>C
NR_134475.1:n.367T>C
NM_002495.4:c.213T>C MANE Select	NP_002486.1:p.His71=
NM_001318051.2:c.213T>C	NP_001304980.1:p.His71=
NR_134473.2:n.409T>C
NR_134474.2:n.326T>C
NR_134475.2:n.361T>C