Canonical Allele Identifier: CA16604964

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 382964
• ClinVar RCV Id: RCV000427116
• dbSNP Id: rs73754255
• gnomAD v2: 5-52856487-A-C
• gnomAD v3: 5-53560657-A-C
• gnomAD v4: 5-53560657-A-C
• MyVariant Identifiers: chr5:g.52856487A>C (hg19) ; chr5:g.53560657A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560657A>C , CM000667.2:g.53560657A>C	GRCh38
NC_000005.9:g.52856487A>C , CM000667.1:g.52856487A>C	GRCh37
NC_000005.8:g.52892244A>C	NCBI36
NG_008200.1:g.5023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.-6A>C MANE Select	ENSP00000296684.5:n.-6A>C
ENST00000296684.9:c.-6A>C	ENSP00000296684.5:n.-6A>C
ENST00000502423.5:c.-6A>C	ENSP00000422177.1:n.-6A>C
ENST00000506974.5:c.-6A>C	ENSP00000425967.1:n.-6A>C
ENST00000507026.5:c.-6A>C	ENSP00000424993.1:n.-6A>C
NM_002495.2:c.-6A>C	NP_002486.1:n.-6A>C
XM_005248525.3:c.-6A>C	XP_005248582.1:n.-6A>C
XM_011543414.1:c.-6A>C	XP_011541716.1:n.-6A>C
NM_001318051.1:c.-6A>C	NP_001304980.1:n.-6A>C
NM_002495.3:c.-6A>C	NP_002486.1:n.-6A>C
NR_134473.1:n.25A>C
NR_134474.1:n.25A>C
NR_134475.1:n.25A>C
XM_017009491.1:c.-6A>C	XP_016864980.1:n.-6A>C
NM_002495.4:c.-6A>C MANE Select	NP_002486.1:n.-6A>C
NM_001318051.2:c.-6A>C	NP_001304980.1:n.-6A>C
NR_134473.2:n.19A>C
NR_134474.2:n.19A>C
NR_134475.2:n.19A>C