Canonical Allele Identifier: CA6143239

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2906738
• ClinVar RCV Id: RCV003734310
• dbSNP Id: rs750767033
• ExAC: 11:67378019 G / GC
• gnomAD v2: 11-67378019-G-GC
• gnomAD v4: 11-67610548-G-GC
• COSMIC: COSM5831843
• MyVariant Identifiers: chr11:g.67378019_67378020insC (hg19) ; chr11:g.67610548_67610549insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610554dup , CM000673.2:g.67610554dup	GRCh38
NC_000011.9:g.67378025dup , CM000673.1:g.67378025dup	GRCh37
NC_000011.8:g.67134601dup	NCBI36
NG_013353.1:g.8703dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.684dup MANE Select	ENSP00000322450.6:p.Phe229LeufsTer?
ENST00000647561.1:c.684dup	ENSP00000497587.1:p.Phe229LeufsTer?
ENST00000322776.10:c.684dup	ENSP00000322450.6:p.Phe229LeufsTer?
ENST00000415352.6:c.663dup	ENSP00000395368.2:p.Phe222LeufsTer?
ENST00000526169.1:n.426dup
ENST00000526770.5:n.543dup
ENST00000529927.5:c.657dup	ENSP00000436766.1:p.Phe220LeufsTer?
ENST00000532244.5:c.381dup	ENSP00000435202.1:p.Phe128LeufsTer7
ENST00000532303.5:c.381dup	ENSP00000432015.1:p.Phe128LeufsTer?
ENST00000533919.5:c.162dup	ENSP00000435199.1:p.Phe55LeufsTer?
NM_001166102.1:c.657dup	NP_001159574.1:p.Phe220LeufsTer?
NM_007103.3:c.684dup	NP_009034.2:p.Phe229LeufsTer?
NM_001166102.2:c.657dup	NP_001159574.1:p.Phe220LeufsTer?
NM_007103.4:c.684dup MANE Select	NP_009034.2:p.Phe229LeufsTer?