Canonical Allele Identifier: CA381541638

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 802693
• ClinVar RCV Id: RCV000988585
• dbSNP Id: rs1591111808
• MyVariant Identifiers: chr11:g.67379416G>T (hg19) ; chr11:g.67611945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611945G>T , CM000673.2:g.67611945G>T	GRCh38
NC_000011.9:g.67379416G>T , CM000673.1:g.67379416G>T	GRCh37
NC_000011.8:g.67135992G>T	NCBI36
NG_013353.1:g.10094G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1129G>T MANE Select	ENSP00000322450.6:p.Glu377Ter
ENST00000647561.1:c.1129G>T	ENSP00000497587.1:p.Glu377Ter
ENST00000322776.10:c.1129G>T	ENSP00000322450.6:p.Glu377Ter
ENST00000415352.6:c.1108G>T	ENSP00000395368.2:p.Glu370Ter
ENST00000526169.1:n.752G>T
ENST00000526770.5:n.1412G>T
ENST00000527355.5:c.370-175G>T	ENSP00000432637.1:n.370-175G>T
ENST00000527923.1:n.471G>T
ENST00000529927.5:c.1102G>T	ENSP00000436766.1:p.Glu368Ter
ENST00000531250.1:n.393G>T
ENST00000532303.5:c.826G>T	ENSP00000432015.1:p.Glu276Ter
ENST00000533919.5:c.533G>T	ENSP00000435199.1:n.533G>T
ENST00000534352.1:n.227G>T
NM_001166102.1:c.1102G>T	NP_001159574.1:p.Glu368Ter
NM_007103.3:c.1129G>T	NP_009034.2:p.Glu377Ter
NM_001166102.2:c.1102G>T	NP_001159574.1:p.Glu368Ter
NM_007103.4:c.1129G>T MANE Select	NP_009034.2:p.Glu377Ter