Canonical Allele Identifier: CA1546660915

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1579914745

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646461T>C , CM000667.2:g.53646461T>C	GRCh38
NC_000005.9:g.52942291T>C , CM000667.1:g.52942291T>C	GRCh37
NC_000005.8:g.52978048T>C	NCBI36
NG_008200.1:g.90827T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.350+56T>C MANE Select	ENSP00000296684.5:n.350+56T>C
ENST00000296684.9:c.350+56T>C	ENSP00000296684.5:n.350+56T>C
ENST00000502423.5:c.*217+56T>C	ENSP00000422177.1:n.*217+56T>C
ENST00000506765.1:c.338+56T>C	ENSP00000424570.1:n.338+56T>C
ENST00000506974.5:c.*126+56T>C	ENSP00000425967.1:n.*126+56T>C
ENST00000507026.5:c.*324+56T>C	ENSP00000424993.1:n.*324+56T>C
ENST00000509443.1:n.211+56T>C
NM_002495.2:c.350+56T>C	NP_002486.1:n.350+56T>C
XM_005248525.3:c.350+56T>C	XP_005248582.1:n.350+56T>C
XM_011543415.1:c.176+56T>C	XP_011541717.1:n.176+56T>C
NM_001318051.1:c.350+56T>C	NP_001304980.1:n.350+56T>C
NM_002495.3:c.350+56T>C	NP_002486.1:n.350+56T>C
NR_134473.1:n.552+56T>C
NR_134474.1:n.469+56T>C
NR_134475.1:n.504+56T>C
NM_002495.4:c.350+56T>C MANE Select	NP_002486.1:n.350+56T>C
NM_001318051.2:c.350+56T>C	NP_001304980.1:n.350+56T>C
NR_134473.2:n.546+56T>C
NR_134474.2:n.463+56T>C
NR_134475.2:n.498+56T>C