Canonical Allele Identifier: CA381540825

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67611484-G-A
• MyVariant Identifiers: chr11:g.67378955G>A (hg19) ; chr11:g.67611484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611484G>A , CM000673.2:g.67611484G>A	GRCh38
NC_000011.9:g.67378955G>A , CM000673.1:g.67378955G>A	GRCh37
NC_000011.8:g.67135531G>A	NCBI36
NG_013353.1:g.9633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.995G>A MANE Select	ENSP00000322450.6:p.Cys332Tyr
ENST00000647561.1:c.995G>A	ENSP00000497587.1:p.Cys332Tyr
ENST00000322776.10:c.995G>A	ENSP00000322450.6:p.Cys332Tyr
ENST00000415352.6:c.974G>A	ENSP00000395368.2:p.Cys325Tyr
ENST00000526169.1:n.656-38G>A
ENST00000526770.5:n.1278G>A
ENST00000527355.5:c.284G>A	ENSP00000432637.1:p.Cys95Tyr
ENST00000527923.1:n.337G>A
ENST00000529927.5:c.968G>A	ENSP00000436766.1:p.Cys323Tyr
ENST00000532303.5:c.692G>A	ENSP00000432015.1:p.Cys231Tyr
ENST00000533919.5:c.399G>A	ENSP00000435199.1:p.Val133=
NM_001166102.1:c.968G>A	NP_001159574.1:p.Cys323Tyr
NM_007103.3:c.995G>A	NP_009034.2:p.Cys332Tyr
NM_001166102.2:c.968G>A	NP_001159574.1:p.Cys323Tyr
NM_007103.4:c.995G>A MANE Select	NP_009034.2:p.Cys332Tyr