Canonical Allele Identifier: CA3264237

Gene: NDUFS4

Linked Data

• dbSNP Id: rs760279473
• ExAC: 5:52942057 C / T
• gnomAD v2: 5-52942057-C-T
• gnomAD v3: 5-53646227-C-T
• gnomAD v4: 5-53646227-C-T
• MyVariant Identifiers: chr5:g.52942057C>T (hg19) ; chr5:g.53646227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646227C>T , CM000667.2:g.53646227C>T	GRCh38
NC_000005.9:g.52942057C>T , CM000667.1:g.52942057C>T	GRCh37
NC_000005.8:g.52977814C>T	NCBI36
NG_008200.1:g.90593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-6C>T MANE Select	ENSP00000296684.5:n.178-6C>T
ENST00000296684.9:c.178-6C>T	ENSP00000296684.5:n.178-6C>T
ENST00000502423.5:c.*45-6C>T	ENSP00000422177.1:n.*45-6C>T
ENST00000506765.1:c.166-6C>T	ENSP00000424570.1:n.166-6C>T
ENST00000506974.5:c.350-6C>T	ENSP00000425967.1:n.350-6C>T
ENST00000507026.5:c.*152-6C>T	ENSP00000424993.1:n.*152-6C>T
ENST00000509443.1:n.33C>T
NM_002495.2:c.178-6C>T	NP_002486.1:n.178-6C>T
XM_005248525.3:c.178-6C>T	XP_005248582.1:n.178-6C>T
XM_011543415.1:c.4-6C>T	XP_011541717.1:n.4-6C>T
NM_001318051.1:c.178-6C>T	NP_001304980.1:n.178-6C>T
NM_002495.3:c.178-6C>T	NP_002486.1:n.178-6C>T
NR_134473.1:n.380-6C>T
NR_134474.1:n.297-6C>T
NR_134475.1:n.332-6C>T
NM_002495.4:c.178-6C>T MANE Select	NP_002486.1:n.178-6C>T
NM_001318051.2:c.178-6C>T	NP_001304980.1:n.178-6C>T
NR_134473.2:n.374-6C>T
NR_134474.2:n.291-6C>T
NR_134475.2:n.326-6C>T