Canonical Allele Identifier: CA2673829358

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658480-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658480T>C , CM000667.2:g.53658480T>C	GRCh38
NC_000005.9:g.52954310T>C , CM000667.1:g.52954310T>C	GRCh37
NC_000005.8:g.52990067T>C	NCBI36
NG_008200.1:g.102846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-71T>C MANE Select	ENSP00000296684.5:n.351-71T>C
ENST00000296684.9:c.351-71T>C	ENSP00000296684.5:n.351-71T>C
ENST00000502423.5:c.*218-71T>C	ENSP00000422177.1:n.*218-71T>C
ENST00000506765.1:c.338+12075T>C	ENSP00000424570.1:n.338+12075T>C
ENST00000506974.5:c.*127-71T>C	ENSP00000425967.1:n.*127-71T>C
ENST00000507026.5:c.*325-71T>C	ENSP00000424993.1:n.*325-71T>C
ENST00000509443.1:n.212-71T>C
NM_002495.2:c.351-71T>C	NP_002486.1:n.351-71T>C
XM_005248525.3:c.350+12075T>C	XP_005248582.1:n.350+12075T>C
XM_011543415.1:c.177-71T>C	XP_011541717.1:n.177-71T>C
NM_001318051.1:c.350+12075T>C	NP_001304980.1:n.350+12075T>C
NM_002495.3:c.351-71T>C	NP_002486.1:n.351-71T>C
NR_134473.1:n.553-71T>C
NR_134474.1:n.470-71T>C
NR_134475.1:n.505-71T>C
NM_002495.4:c.351-71T>C MANE Select	NP_002486.1:n.351-71T>C
NM_001318051.2:c.350+12075T>C	NP_001304980.1:n.350+12075T>C
NR_134473.2:n.547-71T>C
NR_134474.2:n.464-71T>C
NR_134475.2:n.499-71T>C