Canonical Allele Identifier: CA475417229
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378956T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611485T>C , CM000673.2:g.67611485T>C GRCh38
NC_000011.9:g.67378956T>C , CM000673.1:g.67378956T>C GRCh37
NC_000011.8:g.67135532T>C NCBI36
NG_013353.1:g.9634T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.996T>C MANE Select ENSP00000322450.6:p.Cys332=
ENST00000647561.1:c.996T>C ENSP00000497587.1:p.Cys332=
ENST00000322776.10:c.996T>C ENSP00000322450.6:p.Cys332=
ENST00000415352.6:c.975T>C ENSP00000395368.2:p.Cys325=
ENST00000526169.1:n.656-37T>C
ENST00000526770.5:n.1279T>C
ENST00000527355.5:c.285T>C ENSP00000432637.1:p.Cys95=
ENST00000527923.1:n.338T>C
ENST00000529927.5:c.969T>C ENSP00000436766.1:p.Cys323=
ENST00000532303.5:c.693T>C ENSP00000432015.1:p.Cys231=
ENST00000533919.5:c.400T>C ENSP00000435199.1:p.Ter134Arg
NM_001166102.1:c.969T>C NP_001159574.1:p.Cys323=
NM_007103.3:c.996T>C NP_009034.2:p.Cys332=
NM_001166102.2:c.969T>C NP_001159574.1:p.Cys323=
NM_007103.4:c.996T>C MANE Select NP_009034.2:p.Cys332=