Canonical Allele Identifier: CA3264144

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 1028024
• ClinVar RCV Id: RCV001328960
• dbSNP Id: rs776441221
• ExAC: 5:52856565 C / T
• gnomAD v2: 5-52856565-C-T
• gnomAD v3: 5-53560735-C-T
• gnomAD v4: 5-53560735-C-T
• MyVariant Identifiers: chr5:g.52856565C>T (hg19) ; chr5:g.53560735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560735C>T , CM000667.2:g.53560735C>T	GRCh38
NC_000005.9:g.52856565C>T , CM000667.1:g.52856565C>T	GRCh37
NC_000005.8:g.52892322C>T	NCBI36
NG_008200.1:g.5101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.73C>T MANE Select	ENSP00000296684.5:p.Leu25Phe
ENST00000296684.9:c.73C>T	ENSP00000296684.5:p.Leu25Phe
ENST00000502423.5:c.73C>T	ENSP00000422177.1:p.Leu25Phe
ENST00000506765.1:c.61C>T	ENSP00000424570.1:p.Leu21Phe
ENST00000506974.5:c.73C>T	ENSP00000425967.1:p.Leu25Phe
ENST00000507026.5:c.73C>T	ENSP00000424993.1:p.Leu25Phe
NM_002495.2:c.73C>T	NP_002486.1:p.Leu25Phe
XM_005248525.3:c.73C>T	XP_005248582.1:p.Leu25Phe
XM_011543414.1:c.73C>T	XP_011541716.1:p.Leu25Phe
NM_001318051.1:c.73C>T	NP_001304980.1:p.Leu25Phe
NM_002495.3:c.73C>T	NP_002486.1:p.Leu25Phe
NR_134473.1:n.103C>T
NR_134474.1:n.103C>T
NR_134475.1:n.103C>T
XM_017009491.1:c.73C>T	XP_016864980.1:p.Leu25Phe
NM_002495.4:c.73C>T MANE Select	NP_002486.1:p.Leu25Phe
NM_001318051.2:c.73C>T	NP_001304980.1:p.Leu25Phe
NR_134473.2:n.97C>T
NR_134474.2:n.97C>T
NR_134475.2:n.97C>T