Canonical Allele Identifier: CA475416825
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378908T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611437T>A , CM000673.2:g.67611437T>A GRCh38
NC_000011.9:g.67378908T>A , CM000673.1:g.67378908T>A GRCh37
NC_000011.8:g.67135484T>A NCBI36
NG_013353.1:g.9586T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.948T>A MANE Select ENSP00000322450.6:p.Ala316=
ENST00000647561.1:c.948T>A ENSP00000497587.1:p.Ala316=
ENST00000322776.10:c.948T>A ENSP00000322450.6:p.Ala316=
ENST00000415352.6:c.927T>A ENSP00000395368.2:p.Ala309=
ENST00000526169.1:n.656-85T>A
ENST00000526770.5:n.1231T>A
ENST00000527355.5:c.237T>A ENSP00000432637.1:p.Ala79=
ENST00000527923.1:n.290T>A
ENST00000529927.5:c.921T>A ENSP00000436766.1:p.Ala307=
ENST00000532303.5:c.645T>A ENSP00000432015.1:p.Ala215=
ENST00000533919.5:c.392-40T>A ENSP00000435199.1:n.392-40T>A
NM_001166102.1:c.921T>A NP_001159574.1:p.Ala307=
NM_007103.3:c.948T>A NP_009034.2:p.Ala316=
NM_001166102.2:c.921T>A NP_001159574.1:p.Ala307=
NM_007103.4:c.948T>A MANE Select NP_009034.2:p.Ala316=