Canonical Allele Identifier: CA3264232

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 3022385
• ClinVar RCV Id: RCV003881464
• dbSNP Id: rs776069099
• ExAC: 5:52942044 T / C
• gnomAD v2: 5-52942044-T-C
• gnomAD v3: 5-53646214-T-C
• gnomAD v4: 5-53646214-T-C
• MyVariant Identifiers: chr5:g.52942044T>C (hg19) ; chr5:g.53646214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646214T>C , CM000667.2:g.53646214T>C	GRCh38
NC_000005.9:g.52942044T>C , CM000667.1:g.52942044T>C	GRCh37
NC_000005.8:g.52977801T>C	NCBI36
NG_008200.1:g.90580T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-19T>C MANE Select	ENSP00000296684.5:n.178-19T>C
ENST00000296684.9:c.178-19T>C	ENSP00000296684.5:n.178-19T>C
ENST00000502423.5:c.*45-19T>C	ENSP00000422177.1:n.*45-19T>C
ENST00000506765.1:c.166-19T>C	ENSP00000424570.1:n.166-19T>C
ENST00000506974.5:c.350-19T>C	ENSP00000425967.1:n.350-19T>C
ENST00000507026.5:c.*152-19T>C	ENSP00000424993.1:n.*152-19T>C
ENST00000509443.1:n.20T>C
NM_002495.2:c.178-19T>C	NP_002486.1:n.178-19T>C
XM_005248525.3:c.178-19T>C	XP_005248582.1:n.178-19T>C
XM_011543415.1:c.4-19T>C	XP_011541717.1:n.4-19T>C
NM_001318051.1:c.178-19T>C	NP_001304980.1:n.178-19T>C
NM_002495.3:c.178-19T>C	NP_002486.1:n.178-19T>C
NR_134473.1:n.380-19T>C
NR_134474.1:n.297-19T>C
NR_134475.1:n.332-19T>C
NM_002495.4:c.178-19T>C MANE Select	NP_002486.1:n.178-19T>C
NM_001318051.2:c.178-19T>C	NP_001304980.1:n.178-19T>C
NR_134473.2:n.374-19T>C
NR_134474.2:n.291-19T>C
NR_134475.2:n.326-19T>C