Canonical Allele Identifier: CA475412246
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67377887T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610416T>A , CM000673.2:g.67610416T>A GRCh38
NC_000011.9:g.67377887T>A , CM000673.1:g.67377887T>A GRCh37
NC_000011.8:g.67134463T>A NCBI36
NG_013353.1:g.8565T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.546T>A MANE Select ENSP00000322450.6:p.Ile182=
ENST00000647561.1:c.546T>A ENSP00000497587.1:p.Ile182=
ENST00000322776.10:c.546T>A ENSP00000322450.6:p.Ile182=
ENST00000415352.6:c.525T>A ENSP00000395368.2:p.Ile175=
ENST00000526169.1:n.288T>A
ENST00000526770.5:n.405T>A
ENST00000529867.5:c.510T>A ENSP00000434438.1:p.Ile170=
ENST00000529927.5:c.519T>A ENSP00000436766.1:p.Ile173=
ENST00000530638.1:c.429T>A ENSP00000436936.1:p.Ile143=
ENST00000532244.5:c.243T>A ENSP00000435202.1:p.Ile81=
ENST00000532303.5:c.243T>A ENSP00000432015.1:p.Ile81=
ENST00000532343.5:c.243T>A ENSP00000431751.1:p.Ile81=
ENST00000533075.5:c.525T>A ENSP00000437267.1:p.Ile175=
ENST00000533919.5:c.24T>A ENSP00000435199.1:p.Ile8=
NM_001166102.1:c.519T>A NP_001159574.1:p.Ile173=
NM_007103.3:c.546T>A NP_009034.2:p.Ile182=
NM_001166102.2:c.519T>A NP_001159574.1:p.Ile173=
NM_007103.4:c.546T>A MANE Select NP_009034.2:p.Ile182=