Canonical Allele Identifier: CA381541591

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67379410A>G (hg19) ; chr11:g.67611939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611939A>G , CM000673.2:g.67611939A>G	GRCh38
NC_000011.9:g.67379410A>G , CM000673.1:g.67379410A>G	GRCh37
NC_000011.8:g.67135986A>G	NCBI36
NG_013353.1:g.10088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1123A>G MANE Select	ENSP00000322450.6:p.Lys375Glu
ENST00000647561.1:c.1123A>G	ENSP00000497587.1:p.Lys375Glu
ENST00000322776.10:c.1123A>G	ENSP00000322450.6:p.Lys375Glu
ENST00000415352.6:c.1102A>G	ENSP00000395368.2:p.Lys368Glu
ENST00000526169.1:n.746A>G
ENST00000526770.5:n.1406A>G
ENST00000527355.5:c.370-181A>G	ENSP00000432637.1:n.370-181A>G
ENST00000527923.1:n.465A>G
ENST00000529927.5:c.1096A>G	ENSP00000436766.1:p.Lys366Glu
ENST00000531250.1:n.387A>G
ENST00000532303.5:c.820A>G	ENSP00000432015.1:p.Lys274Glu
ENST00000533919.5:c.527A>G	ENSP00000435199.1:n.527A>G
ENST00000534352.1:n.221A>G
NM_001166102.1:c.1096A>G	NP_001159574.1:p.Lys366Glu
NM_007103.3:c.1123A>G	NP_009034.2:p.Lys375Glu
NM_001166102.2:c.1096A>G	NP_001159574.1:p.Lys366Glu
NM_007103.4:c.1123A>G MANE Select	NP_009034.2:p.Lys375Glu