Canonical Allele Identifier: CA2673829199

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646199-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646199T>C , CM000667.2:g.53646199T>C	GRCh38
NC_000005.9:g.52942029T>C , CM000667.1:g.52942029T>C	GRCh37
NC_000005.8:g.52977786T>C	NCBI36
NG_008200.1:g.90565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-34T>C MANE Select	ENSP00000296684.5:n.178-34T>C
ENST00000296684.9:c.178-34T>C	ENSP00000296684.5:n.178-34T>C
ENST00000502423.5:c.*45-34T>C	ENSP00000422177.1:n.*45-34T>C
ENST00000506765.1:c.166-34T>C	ENSP00000424570.1:n.166-34T>C
ENST00000506974.5:c.350-34T>C	ENSP00000425967.1:n.350-34T>C
ENST00000507026.5:c.*152-34T>C	ENSP00000424993.1:n.*152-34T>C
ENST00000509443.1:n.5T>C
NM_002495.2:c.178-34T>C	NP_002486.1:n.178-34T>C
XM_005248525.3:c.178-34T>C	XP_005248582.1:n.178-34T>C
XM_011543415.1:c.4-34T>C	XP_011541717.1:n.4-34T>C
NM_001318051.1:c.178-34T>C	NP_001304980.1:n.178-34T>C
NM_002495.3:c.178-34T>C	NP_002486.1:n.178-34T>C
NR_134473.1:n.380-34T>C
NR_134474.1:n.297-34T>C
NR_134475.1:n.332-34T>C
NM_002495.4:c.178-34T>C MANE Select	NP_002486.1:n.178-34T>C
NM_001318051.2:c.178-34T>C	NP_001304980.1:n.178-34T>C
NR_134473.2:n.374-34T>C
NR_134474.2:n.291-34T>C
NR_134475.2:n.326-34T>C