Canonical Allele Identifier: CA381537365

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378014C>G (hg19) ; chr11:g.67610543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610543C>G , CM000673.2:g.67610543C>G	GRCh38
NC_000011.9:g.67378014C>G , CM000673.1:g.67378014C>G	GRCh37
NC_000011.8:g.67134590C>G	NCBI36
NG_013353.1:g.8692C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.673C>G MANE Select	ENSP00000322450.6:p.Leu225Val
ENST00000647561.1:c.673C>G	ENSP00000497587.1:p.Leu225Val
ENST00000322776.10:c.673C>G	ENSP00000322450.6:p.Leu225Val
ENST00000415352.6:c.652C>G	ENSP00000395368.2:p.Leu218Val
ENST00000526169.1:n.415C>G
ENST00000526770.5:n.532C>G
ENST00000529927.5:c.646C>G	ENSP00000436766.1:p.Leu216Val
ENST00000532244.5:c.370C>G	ENSP00000435202.1:p.Leu124Val
ENST00000532303.5:c.370C>G	ENSP00000432015.1:p.Leu124Val
ENST00000533919.5:c.151C>G	ENSP00000435199.1:p.Leu51Val
NM_001166102.1:c.646C>G	NP_001159574.1:p.Leu216Val
NM_007103.3:c.673C>G	NP_009034.2:p.Leu225Val
NM_001166102.2:c.646C>G	NP_001159574.1:p.Leu216Val
NM_007103.4:c.673C>G MANE Select	NP_009034.2:p.Leu225Val