Canonical Allele Identifier: CA475417248
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378959G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611488G>A , CM000673.2:g.67611488G>A GRCh38
NC_000011.9:g.67378959G>A , CM000673.1:g.67378959G>A GRCh37
NC_000011.8:g.67135535G>A NCBI36
NG_013353.1:g.9637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.999G>A MANE Select ENSP00000322450.6:p.Glu333=
ENST00000647561.1:c.999G>A ENSP00000497587.1:p.Glu333=
ENST00000322776.10:c.999G>A ENSP00000322450.6:p.Glu333=
ENST00000415352.6:c.978G>A ENSP00000395368.2:p.Glu326=
ENST00000526169.1:n.656-34G>A
ENST00000526770.5:n.1282G>A
ENST00000527355.5:c.288G>A ENSP00000432637.1:p.Glu96=
ENST00000527923.1:n.341G>A
ENST00000529927.5:c.972G>A ENSP00000436766.1:p.Glu324=
ENST00000532303.5:c.696G>A ENSP00000432015.1:p.Glu232=
ENST00000533919.5:c.403G>A ENSP00000435199.1:n.403G>A
NM_001166102.1:c.972G>A NP_001159574.1:p.Glu324=
NM_007103.3:c.999G>A NP_009034.2:p.Glu333=
NM_001166102.2:c.972G>A NP_001159574.1:p.Glu324=
NM_007103.4:c.999G>A MANE Select NP_009034.2:p.Glu333=