Canonical Allele Identifier: CA381540839

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378958A>C (hg19) ; chr11:g.67611487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611487A>C , CM000673.2:g.67611487A>C	GRCh38
NC_000011.9:g.67378958A>C , CM000673.1:g.67378958A>C	GRCh37
NC_000011.8:g.67135534A>C	NCBI36
NG_013353.1:g.9636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.998A>C MANE Select	ENSP00000322450.6:p.Glu333Ala
ENST00000647561.1:c.998A>C	ENSP00000497587.1:p.Glu333Ala
ENST00000322776.10:c.998A>C	ENSP00000322450.6:p.Glu333Ala
ENST00000415352.6:c.977A>C	ENSP00000395368.2:p.Glu326Ala
ENST00000526169.1:n.656-35A>C
ENST00000526770.5:n.1281A>C
ENST00000527355.5:c.287A>C	ENSP00000432637.1:p.Glu96Ala
ENST00000527923.1:n.340A>C
ENST00000529927.5:c.971A>C	ENSP00000436766.1:p.Glu324Ala
ENST00000532303.5:c.695A>C	ENSP00000432015.1:p.Glu232Ala
ENST00000533919.5:c.402A>C	ENSP00000435199.1:p.Ter134Cys
NM_001166102.1:c.971A>C	NP_001159574.1:p.Glu324Ala
NM_007103.3:c.998A>C	NP_009034.2:p.Glu333Ala
NM_001166102.2:c.971A>C	NP_001159574.1:p.Glu324Ala
NM_007103.4:c.998A>C MANE Select	NP_009034.2:p.Glu333Ala