Canonical Allele Identifier: CA224180314

Gene: NDUFV1

Linked Data

• dbSNP Id: rs750767033
• gnomAD v2: 11-67378019-GC-G
• gnomAD v3: 11-67610548-GC-G
• gnomAD v4: 11-67610548-GC-G
• COSMIC: COSM1685681
• MyVariant Identifiers: chr11:g.67378020del (hg19) ; chr11:g.67610549del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.684del MANE Select	ENSP00000322450.6:p.Phe229SerfsTer?
ENST00000647561.1:c.684del	ENSP00000497587.1:p.Phe229SerfsTer?
ENST00000322776.10:c.684del	ENSP00000322450.6:p.Phe229SerfsTer?
ENST00000415352.6:c.663del	ENSP00000395368.2:p.Phe222SerfsTer?
ENST00000526169.1:n.426del
ENST00000526770.5:n.543del
ENST00000529927.5:c.657del	ENSP00000436766.1:p.Phe220SerfsTer?
ENST00000532244.5:c.381del	ENSP00000435202.1:p.Phe128SerfsTer?
ENST00000532303.5:c.381del	ENSP00000432015.1:p.Phe128SerfsTer?
ENST00000533919.5:c.162del	ENSP00000435199.1:p.Phe55SerfsTer?
NM_001166102.1:c.657del	NP_001159574.1:p.Phe220SerfsTer?
NM_007103.3:c.684del	NP_009034.2:p.Phe229SerfsTer?
NM_001166102.2:c.657del	NP_001159574.1:p.Phe220SerfsTer?
NM_007103.4:c.684del MANE Select	NP_009034.2:p.Phe229SerfsTer?