Canonical Allele Identifier: CA323413

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 214817
• ClinVar RCV Id: RCV000198881 ; RCV000295911 ; RCV000329830 ; RCV000660466
• dbSNP Id: rs149323691
• ExAC: 5:52856505 T / C
• gnomAD v2: 5-52856505-T-C
• gnomAD v3: 5-53560675-T-C
• gnomAD v4: 5-53560675-T-C
• MyVariant Identifiers: chr5:g.52856505T>C (hg19) ; chr5:g.53560675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560675T>C , CM000667.2:g.53560675T>C	GRCh38
NC_000005.9:g.52856505T>C , CM000667.1:g.52856505T>C	GRCh37
NC_000005.8:g.52892262T>C	NCBI36
NG_008200.1:g.5041T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.13T>C MANE Select	ENSP00000296684.5:p.Ser5Pro
ENST00000296684.9:c.13T>C	ENSP00000296684.5:p.Ser5Pro
ENST00000502423.5:c.13T>C	ENSP00000422177.1:p.Ser5Pro
ENST00000506765.1:c.1T>C	ENSP00000424570.1:p.Ser1Pro
ENST00000506974.5:c.13T>C	ENSP00000425967.1:p.Ser5Pro
ENST00000507026.5:c.13T>C	ENSP00000424993.1:p.Ser5Pro
NM_002495.2:c.13T>C	NP_002486.1:p.Ser5Pro
XM_005248525.3:c.13T>C	XP_005248582.1:p.Ser5Pro
XM_011543414.1:c.13T>C	XP_011541716.1:p.Ser5Pro
NM_001318051.1:c.13T>C	NP_001304980.1:p.Ser5Pro
NM_002495.3:c.13T>C	NP_002486.1:p.Ser5Pro
NR_134473.1:n.43T>C
NR_134474.1:n.43T>C
NR_134475.1:n.43T>C
XM_017009491.1:c.13T>C	XP_016864980.1:p.Ser5Pro
NM_002495.4:c.13T>C MANE Select	NP_002486.1:p.Ser5Pro
NM_001318051.2:c.13T>C	NP_001304980.1:p.Ser5Pro
NR_134473.2:n.37T>C
NR_134474.2:n.37T>C
NR_134475.2:n.37T>C