Canonical Allele Identifier: CA381535204

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67376946C>A (hg19) ; chr11:g.67609475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609475C>A , CM000673.2:g.67609475C>A	GRCh38
NC_000011.9:g.67376946C>A , CM000673.1:g.67376946C>A	GRCh37
NC_000011.8:g.67133522C>A	NCBI36
NG_013353.1:g.7624C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.350C>A MANE Select	ENSP00000322450.6:p.Ala117Glu
ENST00000647561.1:c.350C>A	ENSP00000497587.1:p.Ala117Glu
ENST00000322776.10:c.350C>A	ENSP00000322450.6:p.Ala117Glu
ENST00000415352.6:c.329C>A	ENSP00000395368.2:p.Ala110Glu
ENST00000524838.5:n.407C>A
ENST00000525086.5:n.423C>A
ENST00000526169.1:n.92C>A
ENST00000526770.5:n.209C>A
ENST00000528314.1:c.47C>A	ENSP00000434581.1:p.Ala16Glu
ENST00000528377.1:n.521C>A
ENST00000529867.5:c.314C>A	ENSP00000434438.1:p.Ala105Glu
ENST00000529927.5:c.323C>A	ENSP00000436766.1:p.Ala108Glu
ENST00000530014.5:n.645C>A
ENST00000530103.5:c.*244C>A	ENSP00000434575.1:n.*244C>A
ENST00000530638.1:c.233C>A	ENSP00000436936.1:p.Ala78Glu
ENST00000532244.5:c.47C>A	ENSP00000435202.1:p.Ala16Glu
ENST00000532303.5:c.47C>A	ENSP00000432015.1:p.Ala16Glu
ENST00000532343.5:c.47C>A	ENSP00000431751.1:p.Ala16Glu
ENST00000533075.5:c.329C>A	ENSP00000437267.1:p.Ala110Glu
ENST00000534139.5:n.466C>A
NM_001166102.1:c.323C>A	NP_001159574.1:p.Ala108Glu
NM_007103.3:c.350C>A	NP_009034.2:p.Ala117Glu
NM_001166102.2:c.323C>A	NP_001159574.1:p.Ala108Glu
NM_007103.4:c.350C>A MANE Select	NP_009034.2:p.Ala117Glu