Canonical Allele Identifier: CA381541913
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611973G>C , CM000673.2:g.67611973G>C GRCh38
NC_000011.9:g.67379444G>C , CM000673.1:g.67379444G>C GRCh37
NC_000011.8:g.67136020G>C NCBI36
NG_013353.1:g.10122G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1157G>C MANE Select ENSP00000322450.6:p.Arg386Pro
ENST00000647561.1:c.1157G>C ENSP00000497587.1:p.Arg386Pro
ENST00000322776.10:c.1157G>C ENSP00000322450.6:p.Arg386Pro
ENST00000415352.6:c.1136G>C ENSP00000395368.2:p.Arg379Pro
ENST00000526770.5:n.1440G>C
ENST00000527355.5:c.370-147G>C ENSP00000432637.1:n.370-147G>C
ENST00000527923.1:n.499G>C
ENST00000529927.5:c.1130G>C ENSP00000436766.1:p.Arg377Pro
ENST00000531250.1:n.421G>C
ENST00000532303.5:c.854G>C ENSP00000432015.1:p.Arg285Pro
ENST00000533919.5:c.561G>C ENSP00000435199.1:n.561G>C
ENST00000534352.1:n.255G>C
NM_001166102.1:c.1130G>C NP_001159574.1:p.Arg377Pro
NM_007103.3:c.1157G>C NP_009034.2:p.Arg386Pro
NM_001166102.2:c.1130G>C NP_001159574.1:p.Arg377Pro
NM_007103.4:c.1157G>C MANE Select NP_009034.2:p.Arg386Pro