Canonical Allele Identifier: CA2673829197

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646193-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646193G>C , CM000667.2:g.53646193G>C	GRCh38
NC_000005.9:g.52942023G>C , CM000667.1:g.52942023G>C	GRCh37
NC_000005.8:g.52977780G>C	NCBI36
NG_008200.1:g.90559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-40G>C MANE Select	ENSP00000296684.5:n.178-40G>C
ENST00000296684.9:c.178-40G>C	ENSP00000296684.5:n.178-40G>C
ENST00000502423.5:c.*45-40G>C	ENSP00000422177.1:n.*45-40G>C
ENST00000506765.1:c.166-40G>C	ENSP00000424570.1:n.166-40G>C
ENST00000506974.5:c.350-40G>C	ENSP00000425967.1:n.350-40G>C
ENST00000507026.5:c.*152-40G>C	ENSP00000424993.1:n.*152-40G>C
NM_002495.2:c.178-40G>C	NP_002486.1:n.178-40G>C
XM_005248525.3:c.178-40G>C	XP_005248582.1:n.178-40G>C
XM_011543415.1:c.4-40G>C	XP_011541717.1:n.4-40G>C
NM_001318051.1:c.178-40G>C	NP_001304980.1:n.178-40G>C
NM_002495.3:c.178-40G>C	NP_002486.1:n.178-40G>C
NR_134473.1:n.380-40G>C
NR_134474.1:n.297-40G>C
NR_134475.1:n.332-40G>C
NM_002495.4:c.178-40G>C MANE Select	NP_002486.1:n.178-40G>C
NM_001318051.2:c.178-40G>C	NP_001304980.1:n.178-40G>C
NR_134473.2:n.374-40G>C
NR_134474.2:n.291-40G>C
NR_134475.2:n.326-40G>C