Canonical Allele Identifier: CA3264136

Gene: NDUFS4

Linked Data

• dbSNP Id: rs538161240
• ExAC: 5:52856542 G / C
• gnomAD v2: 5-52856542-G-C
• gnomAD v3: 5-53560712-G-C
• gnomAD v4: 5-53560712-G-C
• MyVariant Identifiers: chr5:g.52856542G>C (hg19) ; chr5:g.53560712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560712G>C , CM000667.2:g.53560712G>C	GRCh38
NC_000005.9:g.52856542G>C , CM000667.1:g.52856542G>C	GRCh37
NC_000005.8:g.52892299G>C	NCBI36
NG_008200.1:g.5078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.50G>C MANE Select	ENSP00000296684.5:p.Arg17Thr
ENST00000296684.9:c.50G>C	ENSP00000296684.5:p.Arg17Thr
ENST00000502423.5:c.50G>C	ENSP00000422177.1:p.Arg17Thr
ENST00000506765.1:c.38G>C	ENSP00000424570.1:p.Arg13Thr
ENST00000506974.5:c.50G>C	ENSP00000425967.1:p.Arg17Thr
ENST00000507026.5:c.50G>C	ENSP00000424993.1:p.Arg17Thr
NM_002495.2:c.50G>C	NP_002486.1:p.Arg17Thr
XM_005248525.3:c.50G>C	XP_005248582.1:p.Arg17Thr
XM_011543414.1:c.50G>C	XP_011541716.1:p.Arg17Thr
NM_001318051.1:c.50G>C	NP_001304980.1:p.Arg17Thr
NM_002495.3:c.50G>C	NP_002486.1:p.Arg17Thr
NR_134473.1:n.80G>C
NR_134474.1:n.80G>C
NR_134475.1:n.80G>C
XM_017009491.1:c.50G>C	XP_016864980.1:p.Arg17Thr
NM_002495.4:c.50G>C MANE Select	NP_002486.1:p.Arg17Thr
NM_001318051.2:c.50G>C	NP_001304980.1:p.Arg17Thr
NR_134473.2:n.74G>C
NR_134474.2:n.74G>C
NR_134475.2:n.74G>C