Canonical Allele Identifier: CA475511063

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1297624206
• gnomAD v2: 11-67379448-G-A
• gnomAD v4: 11-67611977-G-A
• MyVariant Identifiers: chr11:g.67379448G>A (hg19) ; chr11:g.67611977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611977G>A , CM000673.2:g.67611977G>A	GRCh38
NC_000011.9:g.67379448G>A , CM000673.1:g.67379448G>A	GRCh37
NC_000011.8:g.67136024G>A	NCBI36
NG_013353.1:g.10126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1161G>A MANE Select	ENSP00000322450.6:p.Glu387=
ENST00000647561.1:c.1161G>A	ENSP00000497587.1:p.Glu387=
ENST00000322776.10:c.1161G>A	ENSP00000322450.6:p.Glu387=
ENST00000415352.6:c.1140G>A	ENSP00000395368.2:p.Glu380=
ENST00000526770.5:n.1444G>A
ENST00000527355.5:c.370-143G>A	ENSP00000432637.1:n.370-143G>A
ENST00000527923.1:n.503G>A
ENST00000529927.5:c.1134G>A	ENSP00000436766.1:p.Glu378=
ENST00000531250.1:n.425G>A
ENST00000532303.5:c.858G>A	ENSP00000432015.1:p.Glu286=
ENST00000533919.5:c.565G>A	ENSP00000435199.1:n.565G>A
ENST00000534352.1:n.259G>A
NM_001166102.1:c.1134G>A	NP_001159574.1:p.Glu378=
NM_007103.3:c.1161G>A	NP_009034.2:p.Glu387=
NM_001166102.2:c.1134G>A	NP_001159574.1:p.Glu378=
NM_007103.4:c.1161G>A MANE Select	NP_009034.2:p.Glu387=