Canonical Allele Identifier: CA559656451

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1352911723
• gnomAD v2: 5-52954329-T-C
• gnomAD v3: 5-53658499-T-C
• gnomAD v4: 5-53658499-T-C
• MyVariant Identifiers: chr5:g.52954329T>C (hg19) ; chr5:g.53658499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658499T>C , CM000667.2:g.53658499T>C	GRCh38
NC_000005.9:g.52954329T>C , CM000667.1:g.52954329T>C	GRCh37
NC_000005.8:g.52990086T>C	NCBI36
NG_008200.1:g.102865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-52T>C MANE Select	ENSP00000296684.5:n.351-52T>C
ENST00000296684.9:c.351-52T>C	ENSP00000296684.5:n.351-52T>C
ENST00000502423.5:c.*218-52T>C	ENSP00000422177.1:n.*218-52T>C
ENST00000506765.1:c.338+12094T>C	ENSP00000424570.1:n.338+12094T>C
ENST00000506974.5:c.*127-52T>C	ENSP00000425967.1:n.*127-52T>C
ENST00000507026.5:c.*325-52T>C	ENSP00000424993.1:n.*325-52T>C
ENST00000509443.1:n.212-52T>C
NM_002495.2:c.351-52T>C	NP_002486.1:n.351-52T>C
XM_005248525.3:c.350+12094T>C	XP_005248582.1:n.350+12094T>C
XM_011543415.1:c.177-52T>C	XP_011541717.1:n.177-52T>C
NM_001318051.1:c.350+12094T>C	NP_001304980.1:n.350+12094T>C
NM_002495.3:c.351-52T>C	NP_002486.1:n.351-52T>C
NR_134473.1:n.553-52T>C
NR_134474.1:n.470-52T>C
NR_134475.1:n.505-52T>C
NM_002495.4:c.351-52T>C MANE Select	NP_002486.1:n.351-52T>C
NM_001318051.2:c.350+12094T>C	NP_001304980.1:n.350+12094T>C
NR_134473.2:n.547-52T>C
NR_134474.2:n.464-52T>C
NR_134475.2:n.499-52T>C