Canonical Allele Identifier: CA3264313

Gene: NDUFS4

Linked Data

• dbSNP Id: rs371644264
• ExAC: 5:52954502 C / A
• gnomAD v2: 5-52954502-C-A
• gnomAD v3: 5-53658672-C-A
• gnomAD v4: 5-53658672-C-A
• MyVariant Identifiers: chr5:g.52954502C>A (hg19) ; chr5:g.53658672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658672C>A , CM000667.2:g.53658672C>A	GRCh38
NC_000005.9:g.52954502C>A , CM000667.1:g.52954502C>A	GRCh37
NC_000005.8:g.52990259C>A	NCBI36
NG_008200.1:g.103038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+48C>A MANE Select	ENSP00000296684.5:n.424+48C>A
ENST00000296684.9:c.424+48C>A	ENSP00000296684.5:n.424+48C>A
ENST00000502423.5:c.*291+48C>A	ENSP00000422177.1:n.*291+48C>A
ENST00000506765.1:c.338+12267C>A	ENSP00000424570.1:n.338+12267C>A
ENST00000506974.5:c.*200+48C>A	ENSP00000425967.1:n.*200+48C>A
ENST00000507026.5:c.*398+48C>A	ENSP00000424993.1:n.*398+48C>A
ENST00000509443.1:n.333C>A
NM_002495.2:c.424+48C>A	NP_002486.1:n.424+48C>A
XM_005248525.3:c.350+12267C>A	XP_005248582.1:n.350+12267C>A
XM_011543415.1:c.250+48C>A	XP_011541717.1:n.250+48C>A
NM_001318051.1:c.350+12267C>A	NP_001304980.1:n.350+12267C>A
NM_002495.3:c.424+48C>A	NP_002486.1:n.424+48C>A
NR_134473.1:n.626+48C>A
NR_134474.1:n.543+48C>A
NR_134475.1:n.578+48C>A
NM_002495.4:c.424+48C>A MANE Select	NP_002486.1:n.424+48C>A
NM_001318051.2:c.350+12267C>A	NP_001304980.1:n.350+12267C>A
NR_134473.2:n.620+48C>A
NR_134474.2:n.537+48C>A
NR_134475.2:n.572+48C>A