Canonical Allele Identifier: CA320044

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611094G>A , CM000673.2:g.67611094G>A	GRCh38
NC_000011.9:g.67378565G>A , CM000673.1:g.67378565G>A	GRCh37
NC_000011.8:g.67135141G>A	NCBI36
NG_013353.1:g.9243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.800G>A MANE Select	ENSP00000322450.6:p.Arg267Lys
ENST00000647561.1:c.800G>A	ENSP00000497587.1:p.Arg267Lys
ENST00000322776.10:c.800G>A	ENSP00000322450.6:p.Arg267Lys
ENST00000415352.6:c.779G>A	ENSP00000395368.2:p.Arg260Lys
ENST00000526169.1:n.542G>A
ENST00000526770.5:n.1083G>A
ENST00000527355.5:c.89G>A	ENSP00000432637.1:p.Arg30Lys
ENST00000529927.5:c.773G>A	ENSP00000436766.1:p.Arg258Lys
ENST00000532303.5:c.497G>A	ENSP00000432015.1:p.Arg166Lys
ENST00000533919.5:c.278G>A	ENSP00000435199.1:p.Arg93Lys
NM_001166102.1:c.773G>A	NP_001159574.1:p.Arg258Lys
NM_007103.3:c.800G>A	NP_009034.2:p.Arg267Lys
NM_001166102.2:c.773G>A	NP_001159574.1:p.Arg258Lys
NM_007103.4:c.800G>A MANE Select	NP_009034.2:p.Arg267Lys