Canonical Allele Identifier: CA6143447
Community Standard Title: NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67612170C>T , CM000673.2:g.67612170C>T GRCh38
NC_000011.9:g.67379641C>T , CM000673.1:g.67379641C>T GRCh37
NC_000011.8:g.67136217C>T NCBI36
NG_013353.1:g.10319C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007103.4:c.1213C>T MANE Select NP_009034.2:p.Arg405Trp
ENST00000322776.11:c.1213C>T MANE Select ENSP00000322450.6:p.Arg405Trp
NM_001166102.1:c.1186C>T NP_001159574.1:p.Arg396Trp
NM_001166102.2:c.1186C>T NP_001159574.1:p.Arg396Trp
NM_007103.3:c.1213C>T NP_009034.2:p.Arg405Trp
ENST00000322776.10:c.1213C>T ENSP00000322450.6:p.Arg405Trp
ENST00000415352.6:c.1192C>T ENSP00000395368.2:p.Arg398Trp
ENST00000526770.5:n.1496C>T
ENST00000527355.5:c.420C>T ENSP00000432637.1:n.420C>T
ENST00000527923.1:n.555C>T
ENST00000529927.5:c.1186C>T ENSP00000436766.1:p.Arg396Trp
ENST00000531250.1:n.477C>T
ENST00000532303.5:c.910C>T ENSP00000432015.1:p.Arg304Trp
ENST00000533919.5:c.617C>T ENSP00000435199.1:n.617C>T
ENST00000534352.1:n.452C>T
ENST00000647561.1:c.1213C>T ENSP00000497587.1:p.Arg405Trp