Canonical Allele Identifier: CA444329886

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1224289190
• gnomAD v2: 5-52954453-T-C
• gnomAD v4: 5-53658623-T-C
• MyVariant Identifiers: chr5:g.52954453T>C (hg19) ; chr5:g.53658623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658623T>C , CM000667.2:g.53658623T>C	GRCh38
NC_000005.9:g.52954453T>C , CM000667.1:g.52954453T>C	GRCh37
NC_000005.8:g.52990210T>C	NCBI36
NG_008200.1:g.102989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.423T>C MANE Select	ENSP00000296684.5:p.Asn141=
ENST00000296684.9:c.423T>C	ENSP00000296684.5:p.Asn141=
ENST00000502423.5:c.*290T>C	ENSP00000422177.1:n.*290T>C
ENST00000506765.1:c.338+12218T>C	ENSP00000424570.1:n.338+12218T>C
ENST00000506974.5:c.*199T>C	ENSP00000425967.1:n.*199T>C
ENST00000507026.5:c.*397T>C	ENSP00000424993.1:n.*397T>C
ENST00000509443.1:n.284T>C
NM_002495.2:c.423T>C	NP_002486.1:p.Asn141=
XM_005248525.3:c.350+12218T>C	XP_005248582.1:n.350+12218T>C
XM_011543415.1:c.249T>C	XP_011541717.1:p.Asn83=
NM_001318051.1:c.350+12218T>C	NP_001304980.1:n.350+12218T>C
NM_002495.3:c.423T>C	NP_002486.1:p.Asn141=
NR_134473.1:n.625T>C
NR_134474.1:n.542T>C
NR_134475.1:n.577T>C
NM_002495.4:c.423T>C MANE Select	NP_002486.1:p.Asn141=
NM_001318051.2:c.350+12218T>C	NP_001304980.1:n.350+12218T>C
NR_134473.2:n.619T>C
NR_134474.2:n.536T>C
NR_134475.2:n.571T>C