Canonical Allele Identifier: CA3264130

Gene: NDUFS4

Linked Data

• dbSNP Id: rs752987035
• ExAC: 5:52856520 C / G
• gnomAD v2: 5-52856520-C-G
• gnomAD v4: 5-53560690-C-G
• MyVariant Identifiers: chr5:g.52856520C>G (hg19) ; chr5:g.53560690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560690C>G , CM000667.2:g.53560690C>G	GRCh38
NC_000005.9:g.52856520C>G , CM000667.1:g.52856520C>G	GRCh37
NC_000005.8:g.52892277C>G	NCBI36
NG_008200.1:g.5056C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.28C>G MANE Select	ENSP00000296684.5:p.Leu10Val
ENST00000296684.9:c.28C>G	ENSP00000296684.5:p.Leu10Val
ENST00000502423.5:c.28C>G	ENSP00000422177.1:p.Leu10Val
ENST00000506765.1:c.16C>G	ENSP00000424570.1:p.Leu6Val
ENST00000506974.5:c.28C>G	ENSP00000425967.1:p.Leu10Val
ENST00000507026.5:c.28C>G	ENSP00000424993.1:p.Leu10Val
NM_002495.2:c.28C>G	NP_002486.1:p.Leu10Val
XM_005248525.3:c.28C>G	XP_005248582.1:p.Leu10Val
XM_011543414.1:c.28C>G	XP_011541716.1:p.Leu10Val
NM_001318051.1:c.28C>G	NP_001304980.1:p.Leu10Val
NM_002495.3:c.28C>G	NP_002486.1:p.Leu10Val
NR_134473.1:n.58C>G
NR_134474.1:n.58C>G
NR_134475.1:n.58C>G
XM_017009491.1:c.28C>G	XP_016864980.1:p.Leu10Val
NM_002495.4:c.28C>G MANE Select	NP_002486.1:p.Leu10Val
NM_001318051.2:c.28C>G	NP_001304980.1:p.Leu10Val
NR_134473.2:n.52C>G
NR_134474.2:n.52C>G
NR_134475.2:n.52C>G