Canonical Allele Identifier: CA6143282

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611060C>T , CM000673.2:g.67611060C>T	GRCh38
NC_000011.9:g.67378531C>T , CM000673.1:g.67378531C>T	GRCh37
NC_000011.8:g.67135107C>T	NCBI36
NG_013353.1:g.9209C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007103.4:c.766C>T MANE Select	NP_009034.2:p.Arg256Cys
ENST00000322776.11:c.766C>T MANE Select	ENSP00000322450.6:p.Arg256Cys
NM_001166102.1:c.739C>T	NP_001159574.1:p.Arg247Cys
NM_001166102.2:c.739C>T	NP_001159574.1:p.Arg247Cys
NM_007103.3:c.766C>T	NP_009034.2:p.Arg256Cys
ENST00000322776.10:c.766C>T	ENSP00000322450.6:p.Arg256Cys
ENST00000415352.6:c.745C>T	ENSP00000395368.2:p.Arg249Cys
ENST00000526169.1:n.508C>T
ENST00000526770.5:n.1049C>T
ENST00000527355.5:c.55C>T	ENSP00000432637.1:p.Arg19Cys
ENST00000529927.5:c.739C>T	ENSP00000436766.1:p.Arg247Cys
ENST00000532303.5:c.463C>T	ENSP00000432015.1:p.Arg155Cys
ENST00000533919.5:c.244C>T	ENSP00000435199.1:p.Arg82Cys
ENST00000647561.1:c.766C>T	ENSP00000497587.1:p.Arg256Cys