Canonical Allele Identifier: CA3264283

Gene: NDUFS4

Linked Data

• dbSNP Id: rs756310355
• ExAC: 5:52954341 G / C
• gnomAD v2: 5-52954341-G-C
• gnomAD v4: 5-53658511-G-C
• MyVariant Identifiers: chr5:g.52954341G>C (hg19) ; chr5:g.53658511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658511G>C , CM000667.2:g.53658511G>C	GRCh38
NC_000005.9:g.52954341G>C , CM000667.1:g.52954341G>C	GRCh37
NC_000005.8:g.52990098G>C	NCBI36
NG_008200.1:g.102877G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-40G>C MANE Select	ENSP00000296684.5:n.351-40G>C
ENST00000296684.9:c.351-40G>C	ENSP00000296684.5:n.351-40G>C
ENST00000502423.5:c.*218-40G>C	ENSP00000422177.1:n.*218-40G>C
ENST00000506765.1:c.338+12106G>C	ENSP00000424570.1:n.338+12106G>C
ENST00000506974.5:c.*127-40G>C	ENSP00000425967.1:n.*127-40G>C
ENST00000507026.5:c.*325-40G>C	ENSP00000424993.1:n.*325-40G>C
ENST00000509443.1:n.212-40G>C
NM_002495.2:c.351-40G>C	NP_002486.1:n.351-40G>C
XM_005248525.3:c.350+12106G>C	XP_005248582.1:n.350+12106G>C
XM_011543415.1:c.177-40G>C	XP_011541717.1:n.177-40G>C
NM_001318051.1:c.350+12106G>C	NP_001304980.1:n.350+12106G>C
NM_002495.3:c.351-40G>C	NP_002486.1:n.351-40G>C
NR_134473.1:n.553-40G>C
NR_134474.1:n.470-40G>C
NR_134475.1:n.505-40G>C
NM_002495.4:c.351-40G>C MANE Select	NP_002486.1:n.351-40G>C
NM_001318051.2:c.350+12106G>C	NP_001304980.1:n.350+12106G>C
NR_134473.2:n.547-40G>C
NR_134474.2:n.464-40G>C
NR_134475.2:n.499-40G>C