Canonical Allele Identifier: CA123738

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 14059
• ClinVar RCV Id: RCV000015103 ; RCV000497761 ; RCV003234905
• dbSNP Id: rs121913661
• gnomAD v2: 11-67377981-G-A
• gnomAD v3: 11-67610510-G-A
• gnomAD v4: 11-67610510-G-A
• MyVariant Identifiers: chr11:g.67377981G>A (hg19) ; chr11:g.67610510G>A (hg38)
• PubMed: PMID:11349233 ; PMID:26345448

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610510G>A , CM000673.2:g.67610510G>A	GRCh38
NC_000011.9:g.67377981G>A , CM000673.1:g.67377981G>A	GRCh37
NC_000011.8:g.67134557G>A	NCBI36
NG_013353.1:g.8659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.640G>A MANE Select	ENSP00000322450.6:p.Glu214Lys
ENST00000647561.1:c.640G>A	ENSP00000497587.1:p.Glu214Lys
ENST00000322776.10:c.640G>A	ENSP00000322450.6:p.Glu214Lys
ENST00000415352.6:c.619G>A	ENSP00000395368.2:p.Glu207Lys
ENST00000526169.1:n.382G>A
ENST00000526770.5:n.499G>A
ENST00000529927.5:c.613G>A	ENSP00000436766.1:p.Glu205Lys
ENST00000532244.5:c.337G>A	ENSP00000435202.1:p.Glu113Lys
ENST00000532303.5:c.337G>A	ENSP00000432015.1:p.Glu113Lys
ENST00000533919.5:c.118G>A	ENSP00000435199.1:p.Glu40Lys
NM_001166102.1:c.613G>A	NP_001159574.1:p.Glu205Lys
NM_007103.3:c.640G>A	NP_009034.2:p.Glu214Lys
NM_001166102.2:c.613G>A	NP_001159574.1:p.Glu205Lys
NM_007103.4:c.640G>A MANE Select	NP_009034.2:p.Glu214Lys