Canonical Allele Identifier: CA359719710

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942146G>C (hg19) ; chr5:g.53646316G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646316G>C , CM000667.2:g.53646316G>C	GRCh38
NC_000005.9:g.52942146G>C , CM000667.1:g.52942146G>C	GRCh37
NC_000005.8:g.52977903G>C	NCBI36
NG_008200.1:g.90682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.261G>C MANE Select	ENSP00000296684.5:p.Met87Ile
ENST00000296684.9:c.261G>C	ENSP00000296684.5:p.Met87Ile
ENST00000502423.5:c.*128G>C	ENSP00000422177.1:n.*128G>C
ENST00000506765.1:c.249G>C	ENSP00000424570.1:p.Met83Ile
ENST00000506974.5:c.*37G>C	ENSP00000425967.1:n.*37G>C
ENST00000507026.5:c.*235G>C	ENSP00000424993.1:n.*235G>C
ENST00000509443.1:n.122G>C
NM_002495.2:c.261G>C	NP_002486.1:p.Met87Ile
XM_005248525.3:c.261G>C	XP_005248582.1:p.Met87Ile
XM_011543415.1:c.87G>C	XP_011541717.1:p.Met29Ile
NM_001318051.1:c.261G>C	NP_001304980.1:p.Met87Ile
NM_002495.3:c.261G>C	NP_002486.1:p.Met87Ile
NR_134473.1:n.463G>C
NR_134474.1:n.380G>C
NR_134475.1:n.415G>C
NM_002495.4:c.261G>C MANE Select	NP_002486.1:p.Met87Ile
NM_001318051.2:c.261G>C	NP_001304980.1:p.Met87Ile
NR_134473.2:n.457G>C
NR_134474.2:n.374G>C
NR_134475.2:n.409G>C