Canonical Allele Identifier: CA381541930

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67379447A>T (hg19) ; chr11:g.67611976A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611976A>T , CM000673.2:g.67611976A>T	GRCh38
NC_000011.9:g.67379447A>T , CM000673.1:g.67379447A>T	GRCh37
NC_000011.8:g.67136023A>T	NCBI36
NG_013353.1:g.10125A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1160A>T MANE Select	ENSP00000322450.6:p.Glu387Val
ENST00000647561.1:c.1160A>T	ENSP00000497587.1:p.Glu387Val
ENST00000322776.10:c.1160A>T	ENSP00000322450.6:p.Glu387Val
ENST00000415352.6:c.1139A>T	ENSP00000395368.2:p.Glu380Val
ENST00000526770.5:n.1443A>T
ENST00000527355.5:c.370-144A>T	ENSP00000432637.1:n.370-144A>T
ENST00000527923.1:n.502A>T
ENST00000529927.5:c.1133A>T	ENSP00000436766.1:p.Glu378Val
ENST00000531250.1:n.424A>T
ENST00000532303.5:c.857A>T	ENSP00000432015.1:p.Glu286Val
ENST00000533919.5:c.564A>T	ENSP00000435199.1:n.564A>T
ENST00000534352.1:n.258A>T
NM_001166102.1:c.1133A>T	NP_001159574.1:p.Glu378Val
NM_007103.3:c.1160A>T	NP_009034.2:p.Glu387Val
NM_001166102.2:c.1133A>T	NP_001159574.1:p.Glu378Val
NM_007103.4:c.1160A>T MANE Select	NP_009034.2:p.Glu387Val