Canonical Allele Identifier: CA1980190048
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610518T= , CM000673.2:g.67610518T= GRCh38
NC_000011.9:g.67377989T= , CM000673.1:g.67377989T= GRCh37
NC_000011.8:g.67134565T= NCBI36
NG_013353.1:g.8667T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.648T= MANE Select ENSP00000322450.6:p.Ile216=
ENST00000647561.1:c.648T= ENSP00000497587.1:p.Ile216=
ENST00000322776.10:c.648T= ENSP00000322450.6:p.Ile216=
ENST00000415352.6:c.627T= ENSP00000395368.2:p.Ile209=
ENST00000526169.1:n.390T=
ENST00000526770.5:n.507T=
ENST00000529927.5:c.621T= ENSP00000436766.1:p.Ile207=
ENST00000532244.5:c.345T= ENSP00000435202.1:p.Ile115=
ENST00000532303.5:c.345T= ENSP00000432015.1:p.Ile115=
ENST00000533919.5:c.126T= ENSP00000435199.1:p.Ile42=
NM_001166102.1:c.621T= NP_001159574.1:p.Ile207=
NM_007103.3:c.648T= NP_009034.2:p.Ile216=
NM_001166102.2:c.621T= NP_001159574.1:p.Ile207=
NM_007103.4:c.648T= MANE Select NP_009034.2:p.Ile216=