Canonical Allele Identifier: CA475417148
Gene: NDUFV1 HGNC NCBI

Linked Data

dbSNP Id: rs1591111369
MyVariant Identifiers: chr11:g.67378947G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611476G>A , CM000673.2:g.67611476G>A GRCh38
NC_000011.9:g.67378947G>A , CM000673.1:g.67378947G>A GRCh37
NC_000011.8:g.67135523G>A NCBI36
NG_013353.1:g.9625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.987G>A MANE Select ENSP00000322450.6:p.Lys329=
ENST00000647561.1:c.987G>A ENSP00000497587.1:p.Lys329=
ENST00000322776.10:c.987G>A ENSP00000322450.6:p.Lys329=
ENST00000415352.6:c.966G>A ENSP00000395368.2:p.Lys322=
ENST00000526169.1:n.656-46G>A
ENST00000526770.5:n.1270G>A
ENST00000527355.5:c.276G>A ENSP00000432637.1:p.Lys92=
ENST00000527923.1:n.329G>A
ENST00000529927.5:c.960G>A ENSP00000436766.1:p.Lys320=
ENST00000532303.5:c.684G>A ENSP00000432015.1:p.Lys228=
ENST00000533919.5:c.392-1G>A ENSP00000435199.1:n.392-1G>A
NM_001166102.1:c.960G>A NP_001159574.1:p.Lys320=
NM_007103.3:c.987G>A NP_009034.2:p.Lys329=
NM_001166102.2:c.960G>A NP_001159574.1:p.Lys320=
NM_007103.4:c.987G>A MANE Select NP_009034.2:p.Lys329=