Canonical Allele Identifier: CA444329878

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658611-T-C
• MyVariant Identifiers: chr5:g.52954441T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658611T>C , CM000667.2:g.53658611T>C	GRCh38
NC_000005.9:g.52954441T>C , CM000667.1:g.52954441T>C	GRCh37
NC_000005.8:g.52990198T>C	NCBI36
NG_008200.1:g.102977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.411T>C MANE Select	ENSP00000296684.5:p.Phe137=
ENST00000296684.9:c.411T>C	ENSP00000296684.5:p.Phe137=
ENST00000502423.5:c.*278T>C	ENSP00000422177.1:n.*278T>C
ENST00000506765.1:c.338+12206T>C	ENSP00000424570.1:n.338+12206T>C
ENST00000506974.5:c.*187T>C	ENSP00000425967.1:n.*187T>C
ENST00000507026.5:c.*385T>C	ENSP00000424993.1:n.*385T>C
ENST00000509443.1:n.272T>C
NM_002495.2:c.411T>C	NP_002486.1:p.Phe137=
XM_005248525.3:c.350+12206T>C	XP_005248582.1:n.350+12206T>C
XM_011543415.1:c.237T>C	XP_011541717.1:p.Phe79=
NM_001318051.1:c.350+12206T>C	NP_001304980.1:n.350+12206T>C
NM_002495.3:c.411T>C	NP_002486.1:p.Phe137=
NR_134473.1:n.613T>C
NR_134474.1:n.530T>C
NR_134475.1:n.565T>C
NM_002495.4:c.411T>C MANE Select	NP_002486.1:p.Phe137=
NM_001318051.2:c.350+12206T>C	NP_001304980.1:n.350+12206T>C
NR_134473.2:n.607T>C
NR_134474.2:n.524T>C
NR_134475.2:n.559T>C