Canonical Allele Identifier: CA444330361

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1225104786
• gnomAD v2: 5-52942149-G-A
• gnomAD v4: 5-53646319-G-A
• MyVariant Identifiers: chr5:g.52942149G>A (hg19) ; chr5:g.53646319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646319G>A , CM000667.2:g.53646319G>A	GRCh38
NC_000005.9:g.52942149G>A , CM000667.1:g.52942149G>A	GRCh37
NC_000005.8:g.52977906G>A	NCBI36
NG_008200.1:g.90685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.264G>A MANE Select	ENSP00000296684.5:p.Gln88=
ENST00000296684.9:c.264G>A	ENSP00000296684.5:p.Gln88=
ENST00000502423.5:c.*131G>A	ENSP00000422177.1:n.*131G>A
ENST00000506765.1:c.252G>A	ENSP00000424570.1:p.Gln84=
ENST00000506974.5:c.*40G>A	ENSP00000425967.1:n.*40G>A
ENST00000507026.5:c.*238G>A	ENSP00000424993.1:n.*238G>A
ENST00000509443.1:n.125G>A
NM_002495.2:c.264G>A	NP_002486.1:p.Gln88=
XM_005248525.3:c.264G>A	XP_005248582.1:p.Gln88=
XM_011543415.1:c.90G>A	XP_011541717.1:p.Gln30=
NM_001318051.1:c.264G>A	NP_001304980.1:p.Gln88=
NM_002495.3:c.264G>A	NP_002486.1:p.Gln88=
NR_134473.1:n.466G>A
NR_134474.1:n.383G>A
NR_134475.1:n.418G>A
NM_002495.4:c.264G>A MANE Select	NP_002486.1:p.Gln88=
NM_001318051.2:c.264G>A	NP_001304980.1:p.Gln88=
NR_134473.2:n.460G>A
NR_134474.2:n.377G>A
NR_134475.2:n.412G>A