Canonical Allele Identifier: CA559663834

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1392048294
• gnomAD v2: 5-52942042-T-C
• MyVariant Identifiers: chr5:g.52942042T>C (hg19) ; chr5:g.53646212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646212T>C , CM000667.2:g.53646212T>C	GRCh38
NC_000005.9:g.52942042T>C , CM000667.1:g.52942042T>C	GRCh37
NC_000005.8:g.52977799T>C	NCBI36
NG_008200.1:g.90578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-21T>C MANE Select	ENSP00000296684.5:n.178-21T>C
ENST00000296684.9:c.178-21T>C	ENSP00000296684.5:n.178-21T>C
ENST00000502423.5:c.*45-21T>C	ENSP00000422177.1:n.*45-21T>C
ENST00000506765.1:c.166-21T>C	ENSP00000424570.1:n.166-21T>C
ENST00000506974.5:c.350-21T>C	ENSP00000425967.1:n.350-21T>C
ENST00000507026.5:c.*152-21T>C	ENSP00000424993.1:n.*152-21T>C
ENST00000509443.1:n.18T>C
NM_002495.2:c.178-21T>C	NP_002486.1:n.178-21T>C
XM_005248525.3:c.178-21T>C	XP_005248582.1:n.178-21T>C
XM_011543415.1:c.4-21T>C	XP_011541717.1:n.4-21T>C
NM_001318051.1:c.178-21T>C	NP_001304980.1:n.178-21T>C
NM_002495.3:c.178-21T>C	NP_002486.1:n.178-21T>C
NR_134473.1:n.380-21T>C
NR_134474.1:n.297-21T>C
NR_134475.1:n.332-21T>C
NM_002495.4:c.178-21T>C MANE Select	NP_002486.1:n.178-21T>C
NM_001318051.2:c.178-21T>C	NP_001304980.1:n.178-21T>C
NR_134473.2:n.374-21T>C
NR_134474.2:n.291-21T>C
NR_134475.2:n.326-21T>C