Canonical Allele Identifier: CA381541925

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67379446G>C (hg19) ; chr11:g.67611975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611975G>C , CM000673.2:g.67611975G>C	GRCh38
NC_000011.9:g.67379446G>C , CM000673.1:g.67379446G>C	GRCh37
NC_000011.8:g.67136022G>C	NCBI36
NG_013353.1:g.10124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1159G>C MANE Select	ENSP00000322450.6:p.Glu387Gln
ENST00000647561.1:c.1159G>C	ENSP00000497587.1:p.Glu387Gln
ENST00000322776.10:c.1159G>C	ENSP00000322450.6:p.Glu387Gln
ENST00000415352.6:c.1138G>C	ENSP00000395368.2:p.Glu380Gln
ENST00000526770.5:n.1442G>C
ENST00000527355.5:c.370-145G>C	ENSP00000432637.1:n.370-145G>C
ENST00000527923.1:n.501G>C
ENST00000529927.5:c.1132G>C	ENSP00000436766.1:p.Glu378Gln
ENST00000531250.1:n.423G>C
ENST00000532303.5:c.856G>C	ENSP00000432015.1:p.Glu286Gln
ENST00000533919.5:c.563G>C	ENSP00000435199.1:n.563G>C
ENST00000534352.1:n.257G>C
NM_001166102.1:c.1132G>C	NP_001159574.1:p.Glu378Gln
NM_007103.3:c.1159G>C	NP_009034.2:p.Glu387Gln
NM_001166102.2:c.1132G>C	NP_001159574.1:p.Glu378Gln
NM_007103.4:c.1159G>C MANE Select	NP_009034.2:p.Glu387Gln