Canonical Allele Identifier: CA359719772

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1561383930
• gnomAD v2: 5-52942174-T-C
• gnomAD v4: 5-53646344-T-C
• MyVariant Identifiers: chr5:g.52942174T>C (hg19) ; chr5:g.52942174_52942175delinsCG (hg19) ; chr5:g.53646344T>C (hg38) ; chr5:g.53646344_53646345delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646344T>C , CM000667.2:g.53646344T>C	GRCh38
NC_000005.9:g.52942174T>C , CM000667.1:g.52942174T>C	GRCh37
NC_000005.8:g.52977931T>C	NCBI36
NG_008200.1:g.90710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.289T>C MANE Select	ENSP00000296684.5:p.Trp97Arg
ENST00000296684.9:c.289T>C	ENSP00000296684.5:p.Trp97Arg
ENST00000502423.5:c.*156T>C	ENSP00000422177.1:n.*156T>C
ENST00000506765.1:c.277T>C	ENSP00000424570.1:p.Trp93Arg
ENST00000506974.5:c.*65T>C	ENSP00000425967.1:n.*65T>C
ENST00000507026.5:c.*263T>C	ENSP00000424993.1:n.*263T>C
ENST00000509443.1:n.150T>C
NM_002495.2:c.289T>C	NP_002486.1:p.Trp97Arg
XM_005248525.3:c.289T>C	XP_005248582.1:p.Trp97Arg
XM_011543415.1:c.115T>C	XP_011541717.1:p.Trp39Arg
NM_001318051.1:c.289T>C	NP_001304980.1:p.Trp97Arg
NM_002495.3:c.289T>C	NP_002486.1:p.Trp97Arg
NR_134473.1:n.491T>C
NR_134474.1:n.408T>C
NR_134475.1:n.443T>C
NM_002495.4:c.289T>C MANE Select	NP_002486.1:p.Trp97Arg
NM_001318051.2:c.289T>C	NP_001304980.1:p.Trp97Arg
NR_134473.2:n.485T>C
NR_134474.2:n.402T>C
NR_134475.2:n.437T>C