Canonical Allele Identifier: CA3264294

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 736038
• ClinVar RCV Id: RCV000911644 ; RCV001154689 ; RCV001154690
• dbSNP Id: rs368876333
• ExAC: 5:52954390 C / G
• gnomAD v2: 5-52954390-C-G
• gnomAD v3: 5-53658560-C-G
• gnomAD v4: 5-53658560-C-G
• MyVariant Identifiers: chr5:g.52954390C>G (hg19) ; chr5:g.53658560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658560C>G , CM000667.2:g.53658560C>G	GRCh38
NC_000005.9:g.52954390C>G , CM000667.1:g.52954390C>G	GRCh37
NC_000005.8:g.52990147C>G	NCBI36
NG_008200.1:g.102926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.360C>G MANE Select	ENSP00000296684.5:p.Pro120=
ENST00000296684.9:c.360C>G	ENSP00000296684.5:p.Pro120=
ENST00000502423.5:c.*227C>G	ENSP00000422177.1:n.*227C>G
ENST00000506765.1:c.338+12155C>G	ENSP00000424570.1:n.338+12155C>G
ENST00000506974.5:c.*136C>G	ENSP00000425967.1:n.*136C>G
ENST00000507026.5:c.*334C>G	ENSP00000424993.1:n.*334C>G
ENST00000509443.1:n.221C>G
NM_002495.2:c.360C>G	NP_002486.1:p.Pro120=
XM_005248525.3:c.350+12155C>G	XP_005248582.1:n.350+12155C>G
XM_011543415.1:c.186C>G	XP_011541717.1:p.Pro62=
NM_001318051.1:c.350+12155C>G	NP_001304980.1:n.350+12155C>G
NM_002495.3:c.360C>G	NP_002486.1:p.Pro120=
NR_134473.1:n.562C>G
NR_134474.1:n.479C>G
NR_134475.1:n.514C>G
NM_002495.4:c.360C>G MANE Select	NP_002486.1:p.Pro120=
NM_001318051.2:c.350+12155C>G	NP_001304980.1:n.350+12155C>G
NR_134473.2:n.556C>G
NR_134474.2:n.473C>G
NR_134475.2:n.508C>G