Canonical Allele Identifier: CA381537382

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378018A>G (hg19) ; chr11:g.67610547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610547A>G , CM000673.2:g.67610547A>G	GRCh38
NC_000011.9:g.67378018A>G , CM000673.1:g.67378018A>G	GRCh37
NC_000011.8:g.67134594A>G	NCBI36
NG_013353.1:g.8696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.677A>G MANE Select	ENSP00000322450.6:p.Lys226Arg
ENST00000647561.1:c.677A>G	ENSP00000497587.1:p.Lys226Arg
ENST00000322776.10:c.677A>G	ENSP00000322450.6:p.Lys226Arg
ENST00000415352.6:c.656A>G	ENSP00000395368.2:p.Lys219Arg
ENST00000526169.1:n.419A>G
ENST00000526770.5:n.536A>G
ENST00000529927.5:c.650A>G	ENSP00000436766.1:p.Lys217Arg
ENST00000532244.5:c.374A>G	ENSP00000435202.1:p.Lys125Arg
ENST00000532303.5:c.374A>G	ENSP00000432015.1:p.Lys125Arg
ENST00000533919.5:c.155A>G	ENSP00000435199.1:p.Lys52Arg
NM_001166102.1:c.650A>G	NP_001159574.1:p.Lys217Arg
NM_007103.3:c.677A>G	NP_009034.2:p.Lys226Arg
NM_001166102.2:c.650A>G	NP_001159574.1:p.Lys217Arg
NM_007103.4:c.677A>G MANE Select	NP_009034.2:p.Lys226Arg