Canonical Allele Identifier: CA381540783
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611470C>G , CM000673.2:g.67611470C>G GRCh38
NC_000011.9:g.67378941C>G , CM000673.1:g.67378941C>G GRCh37
NC_000011.8:g.67135517C>G NCBI36
NG_013353.1:g.9619C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.981C>G MANE Select ENSP00000322450.6:p.Ile327Met
ENST00000647561.1:c.981C>G ENSP00000497587.1:p.Ile327Met
ENST00000322776.10:c.981C>G ENSP00000322450.6:p.Ile327Met
ENST00000415352.6:c.960C>G ENSP00000395368.2:p.Ile320Met
ENST00000526169.1:n.656-52C>G
ENST00000526770.5:n.1264C>G
ENST00000527355.5:c.270C>G ENSP00000432637.1:p.Ile90Met
ENST00000527923.1:n.323C>G
ENST00000529927.5:c.954C>G ENSP00000436766.1:p.Ile318Met
ENST00000532303.5:c.678C>G ENSP00000432015.1:p.Ile226Met
ENST00000533919.5:c.392-7C>G ENSP00000435199.1:n.392-7C>G
NM_001166102.1:c.954C>G NP_001159574.1:p.Ile318Met
NM_007103.3:c.981C>G NP_009034.2:p.Ile327Met
NM_001166102.2:c.954C>G NP_001159574.1:p.Ile318Met
NM_007103.4:c.981C>G MANE Select NP_009034.2:p.Ile327Met