Canonical Allele Identifier: CA2842278180

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611549dup , CM000673.2:g.67611549dup	GRCh38
NC_000011.9:g.67379020dup , CM000673.1:g.67379020dup	GRCh37
NC_000011.8:g.67135596dup	NCBI36
NG_013353.1:g.9698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1060dup MANE Select	ENSP00000322450.6:p.Val354GlyfsTer19
ENST00000647561.1:c.1060dup	ENSP00000497587.1:p.Val354GlyfsTer19
ENST00000322776.10:c.1060dup	ENSP00000322450.6:p.Val354GlyfsTer19
ENST00000415352.6:c.1039dup	ENSP00000395368.2:p.Val347GlyfsTer19
ENST00000526169.1:n.683dup
ENST00000526770.5:n.1343dup
ENST00000527355.5:c.349dup	ENSP00000432637.1:p.Val117GlyfsTer?
ENST00000527923.1:n.402dup
ENST00000529927.5:c.1033dup	ENSP00000436766.1:p.Val345GlyfsTer19
ENST00000532303.5:c.757dup	ENSP00000432015.1:p.Val253GlyfsTer19
ENST00000533919.5:c.464dup	ENSP00000435199.1:n.464dup
NM_001166102.1:c.1033dup	NP_001159574.1:p.Val345GlyfsTer19
NM_007103.3:c.1060dup	NP_009034.2:p.Val354GlyfsTer19
NM_001166102.2:c.1033dup	NP_001159574.1:p.Val345GlyfsTer19
NM_007103.4:c.1060dup MANE Select	NP_009034.2:p.Val354GlyfsTer19