Canonical Allele Identifier: CA381540487

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378891T>A (hg19) ; chr11:g.67611420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611420T>A , CM000673.2:g.67611420T>A	GRCh38
NC_000011.9:g.67378891T>A , CM000673.1:g.67378891T>A	GRCh37
NC_000011.8:g.67135467T>A	NCBI36
NG_013353.1:g.9569T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.931T>A MANE Select	ENSP00000322450.6:p.Trp311Arg
ENST00000647561.1:c.931T>A	ENSP00000497587.1:p.Trp311Arg
ENST00000322776.10:c.931T>A	ENSP00000322450.6:p.Trp311Arg
ENST00000415352.6:c.910T>A	ENSP00000395368.2:p.Trp304Arg
ENST00000526169.1:n.656-102T>A
ENST00000526770.5:n.1214T>A
ENST00000527355.5:c.220T>A	ENSP00000432637.1:p.Trp74Arg
ENST00000527923.1:n.273T>A
ENST00000529927.5:c.904T>A	ENSP00000436766.1:p.Trp302Arg
ENST00000532303.5:c.628T>A	ENSP00000432015.1:p.Trp210Arg
ENST00000533919.5:c.392-57T>A	ENSP00000435199.1:n.392-57T>A
NM_001166102.1:c.904T>A	NP_001159574.1:p.Trp302Arg
NM_007103.3:c.931T>A	NP_009034.2:p.Trp311Arg
NM_001166102.2:c.904T>A	NP_001159574.1:p.Trp302Arg
NM_007103.4:c.931T>A MANE Select	NP_009034.2:p.Trp311Arg