Canonical Allele Identifier: CA475417043
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378935A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611464A>C , CM000673.2:g.67611464A>C GRCh38
NC_000011.9:g.67378935A>C , CM000673.1:g.67378935A>C GRCh37
NC_000011.8:g.67135511A>C NCBI36
NG_013353.1:g.9613A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.975A>C MANE Select ENSP00000322450.6:p.Pro325=
ENST00000647561.1:c.975A>C ENSP00000497587.1:p.Pro325=
ENST00000322776.10:c.975A>C ENSP00000322450.6:p.Pro325=
ENST00000415352.6:c.954A>C ENSP00000395368.2:p.Pro318=
ENST00000526169.1:n.656-58A>C
ENST00000526770.5:n.1258A>C
ENST00000527355.5:c.264A>C ENSP00000432637.1:p.Pro88=
ENST00000527923.1:n.317A>C
ENST00000529927.5:c.948A>C ENSP00000436766.1:p.Pro316=
ENST00000532303.5:c.672A>C ENSP00000432015.1:p.Pro224=
ENST00000533919.5:c.392-13A>C ENSP00000435199.1:n.392-13A>C
NM_001166102.1:c.948A>C NP_001159574.1:p.Pro316=
NM_007103.3:c.975A>C NP_009034.2:p.Pro325=
NM_001166102.2:c.948A>C NP_001159574.1:p.Pro316=
NM_007103.4:c.975A>C MANE Select NP_009034.2:p.Pro325=