Canonical Allele Identifier: CA475417330
Gene: NDUFV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67378968G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611497G>C , CM000673.2:g.67611497G>C GRCh38
NC_000011.9:g.67378968G>C , CM000673.1:g.67378968G>C GRCh37
NC_000011.8:g.67135544G>C NCBI36
NG_013353.1:g.9646G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1008G>C MANE Select ENSP00000322450.6:p.Leu336=
ENST00000647561.1:c.1008G>C ENSP00000497587.1:p.Leu336=
ENST00000322776.10:c.1008G>C ENSP00000322450.6:p.Leu336=
ENST00000415352.6:c.987G>C ENSP00000395368.2:p.Leu329=
ENST00000526169.1:n.656-25G>C
ENST00000526770.5:n.1291G>C
ENST00000527355.5:c.297G>C ENSP00000432637.1:p.Leu99=
ENST00000527923.1:n.350G>C
ENST00000529927.5:c.981G>C ENSP00000436766.1:p.Leu327=
ENST00000532303.5:c.705G>C ENSP00000432015.1:p.Leu235=
ENST00000533919.5:c.412G>C ENSP00000435199.1:n.412G>C
NM_001166102.1:c.981G>C NP_001159574.1:p.Leu327=
NM_007103.3:c.1008G>C NP_009034.2:p.Leu336=
NM_001166102.2:c.981G>C NP_001159574.1:p.Leu327=
NM_007103.4:c.1008G>C MANE Select NP_009034.2:p.Leu336=