Canonical Allele Identifier: CA381540955

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378984C>G (hg19) ; chr11:g.67611513C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611513C>G , CM000673.2:g.67611513C>G	GRCh38
NC_000011.9:g.67378984C>G , CM000673.1:g.67378984C>G	GRCh37
NC_000011.8:g.67135560C>G	NCBI36
NG_013353.1:g.9662C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1024C>G MANE Select	ENSP00000322450.6:p.Leu342Val
ENST00000647561.1:c.1024C>G	ENSP00000497587.1:p.Leu342Val
ENST00000322776.10:c.1024C>G	ENSP00000322450.6:p.Leu342Val
ENST00000415352.6:c.1003C>G	ENSP00000395368.2:p.Leu335Val
ENST00000526169.1:n.656-9C>G
ENST00000526770.5:n.1307C>G
ENST00000527355.5:c.313C>G	ENSP00000432637.1:p.Leu105Val
ENST00000527923.1:n.366C>G
ENST00000529927.5:c.997C>G	ENSP00000436766.1:p.Leu333Val
ENST00000532303.5:c.721C>G	ENSP00000432015.1:p.Leu241Val
ENST00000533919.5:c.428C>G	ENSP00000435199.1:n.428C>G
NM_001166102.1:c.997C>G	NP_001159574.1:p.Leu333Val
NM_007103.3:c.1024C>G	NP_009034.2:p.Leu342Val
NM_001166102.2:c.997C>G	NP_001159574.1:p.Leu333Val
NM_007103.4:c.1024C>G MANE Select	NP_009034.2:p.Leu342Val