Canonical Allele Identifier: CA475417462
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378986G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611515G>T , CM000673.2:g.67611515G>T GRCh38
NC_000011.9:g.67378986G>T , CM000673.1:g.67378986G>T GRCh37
NC_000011.8:g.67135562G>T NCBI36
NG_013353.1:g.9664G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.1026G>T MANE Select ENSP00000322450.6:p.Leu342=
ENST00000647561.1:c.1026G>T ENSP00000497587.1:p.Leu342=
ENST00000322776.10:c.1026G>T ENSP00000322450.6:p.Leu342=
ENST00000415352.6:c.1005G>T ENSP00000395368.2:p.Leu335=
ENST00000526169.1:n.656-7G>T
ENST00000526770.5:n.1309G>T
ENST00000527355.5:c.315G>T ENSP00000432637.1:p.Leu105=
ENST00000527923.1:n.368G>T
ENST00000529927.5:c.999G>T ENSP00000436766.1:p.Leu333=
ENST00000532303.5:c.723G>T ENSP00000432015.1:p.Leu241=
ENST00000533919.5:c.430G>T ENSP00000435199.1:n.430G>T
NM_001166102.1:c.999G>T NP_001159574.1:p.Leu333=
NM_007103.3:c.1026G>T NP_009034.2:p.Leu342=
NM_001166102.2:c.999G>T NP_001159574.1:p.Leu333=
NM_007103.4:c.1026G>T MANE Select NP_009034.2:p.Leu342=