Canonical Allele Identifier: CA3264225

Gene: NDUFS4

Linked Data

• dbSNP Id: rs771107044
• ExAC: 5:52942035 C / T
• gnomAD v2: 5-52942035-C-T
• gnomAD v3: 5-53646205-C-T
• gnomAD v4: 5-53646205-C-T
• MyVariant Identifiers: chr5:g.52942035C>T (hg19) ; chr5:g.52942035_52942037delinsTGT (hg19) ; chr5:g.53646205C>T (hg38) ; chr5:g.53646205_53646207delinsTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646205C>T , CM000667.2:g.53646205C>T	GRCh38
NC_000005.9:g.52942035C>T , CM000667.1:g.52942035C>T	GRCh37
NC_000005.8:g.52977792C>T	NCBI36
NG_008200.1:g.90571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-28C>T MANE Select	ENSP00000296684.5:n.178-28C>T
ENST00000296684.9:c.178-28C>T	ENSP00000296684.5:n.178-28C>T
ENST00000502423.5:c.*45-28C>T	ENSP00000422177.1:n.*45-28C>T
ENST00000506765.1:c.166-28C>T	ENSP00000424570.1:n.166-28C>T
ENST00000506974.5:c.350-28C>T	ENSP00000425967.1:n.350-28C>T
ENST00000507026.5:c.*152-28C>T	ENSP00000424993.1:n.*152-28C>T
ENST00000509443.1:n.11C>T
NM_002495.2:c.178-28C>T	NP_002486.1:n.178-28C>T
XM_005248525.3:c.178-28C>T	XP_005248582.1:n.178-28C>T
XM_011543415.1:c.4-28C>T	XP_011541717.1:n.4-28C>T
NM_001318051.1:c.178-28C>T	NP_001304980.1:n.178-28C>T
NM_002495.3:c.178-28C>T	NP_002486.1:n.178-28C>T
NR_134473.1:n.380-28C>T
NR_134474.1:n.297-28C>T
NR_134475.1:n.332-28C>T
NM_002495.4:c.178-28C>T MANE Select	NP_002486.1:n.178-28C>T
NM_001318051.2:c.178-28C>T	NP_001304980.1:n.178-28C>T
NR_134473.2:n.374-28C>T
NR_134474.2:n.291-28C>T
NR_134475.2:n.326-28C>T