Canonical Allele Identifier: CA381540957

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378985T>G (hg19) ; chr11:g.67611514T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611514T>G , CM000673.2:g.67611514T>G	GRCh38
NC_000011.9:g.67378985T>G , CM000673.1:g.67378985T>G	GRCh37
NC_000011.8:g.67135561T>G	NCBI36
NG_013353.1:g.9663T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1025T>G MANE Select	ENSP00000322450.6:p.Leu342Arg
ENST00000647561.1:c.1025T>G	ENSP00000497587.1:p.Leu342Arg
ENST00000322776.10:c.1025T>G	ENSP00000322450.6:p.Leu342Arg
ENST00000415352.6:c.1004T>G	ENSP00000395368.2:p.Leu335Arg
ENST00000526169.1:n.656-8T>G
ENST00000526770.5:n.1308T>G
ENST00000527355.5:c.314T>G	ENSP00000432637.1:p.Leu105Arg
ENST00000527923.1:n.367T>G
ENST00000529927.5:c.998T>G	ENSP00000436766.1:p.Leu333Arg
ENST00000532303.5:c.722T>G	ENSP00000432015.1:p.Leu241Arg
ENST00000533919.5:c.429T>G	ENSP00000435199.1:n.429T>G
NM_001166102.1:c.998T>G	NP_001159574.1:p.Leu333Arg
NM_007103.3:c.1025T>G	NP_009034.2:p.Leu342Arg
NM_001166102.2:c.998T>G	NP_001159574.1:p.Leu333Arg
NM_007103.4:c.1025T>G MANE Select	NP_009034.2:p.Leu342Arg