Canonical Allele Identifier: CA359719211

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954427G>C (hg19) ; chr5:g.53658597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658597G>C , CM000667.2:g.53658597G>C	GRCh38
NC_000005.9:g.52954427G>C , CM000667.1:g.52954427G>C	GRCh37
NC_000005.8:g.52990184G>C	NCBI36
NG_008200.1:g.102963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.397G>C MANE Select	ENSP00000296684.5:p.Asp133His
ENST00000296684.9:c.397G>C	ENSP00000296684.5:p.Asp133His
ENST00000502423.5:c.*264G>C	ENSP00000422177.1:n.*264G>C
ENST00000506765.1:c.338+12192G>C	ENSP00000424570.1:n.338+12192G>C
ENST00000506974.5:c.*173G>C	ENSP00000425967.1:n.*173G>C
ENST00000507026.5:c.*371G>C	ENSP00000424993.1:n.*371G>C
ENST00000509443.1:n.258G>C
NM_002495.2:c.397G>C	NP_002486.1:p.Asp133His
XM_005248525.3:c.350+12192G>C	XP_005248582.1:n.350+12192G>C
XM_011543415.1:c.223G>C	XP_011541717.1:p.Asp75His
NM_001318051.1:c.350+12192G>C	NP_001304980.1:n.350+12192G>C
NM_002495.3:c.397G>C	NP_002486.1:p.Asp133His
NR_134473.1:n.599G>C
NR_134474.1:n.516G>C
NR_134475.1:n.551G>C
NM_002495.4:c.397G>C MANE Select	NP_002486.1:p.Asp133His
NM_001318051.2:c.350+12192G>C	NP_001304980.1:n.350+12192G>C
NR_134473.2:n.593G>C
NR_134474.2:n.510G>C
NR_134475.2:n.545G>C