Canonical Allele Identifier: CA475412806
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67377989T>A (hg19)

Genomic Alleles

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

Transcript Alleles

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