Canonical Allele Identifier: CA381541927

Gene: NDUFV1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1160A>C MANE Select	ENSP00000322450.6:p.Glu387Ala
ENST00000647561.1:c.1160A>C	ENSP00000497587.1:p.Glu387Ala
ENST00000322776.10:c.1160A>C	ENSP00000322450.6:p.Glu387Ala
ENST00000415352.6:c.1139A>C	ENSP00000395368.2:p.Glu380Ala
ENST00000526770.5:n.1443A>C
ENST00000527355.5:c.370-144A>C	ENSP00000432637.1:n.370-144A>C
ENST00000527923.1:n.502A>C
ENST00000529927.5:c.1133A>C	ENSP00000436766.1:p.Glu378Ala
ENST00000531250.1:n.424A>C
ENST00000532303.5:c.857A>C	ENSP00000432015.1:p.Glu286Ala
ENST00000533919.5:c.564A>C	ENSP00000435199.1:n.564A>C
ENST00000534352.1:n.258A>C
NM_001166102.1:c.1133A>C	NP_001159574.1:p.Glu378Ala
NM_007103.3:c.1160A>C	NP_009034.2:p.Glu387Ala
NM_001166102.2:c.1133A>C	NP_001159574.1:p.Glu378Ala
NM_007103.4:c.1160A>C MANE Select	NP_009034.2:p.Glu387Ala