Canonical Allele Identifier: CA6143336

Gene: NDUFV1

Linked Data

• dbSNP Id: rs770680661
• ExAC: 11:67378882 AC / A
• gnomAD v2: 11-67378882-AC-A
• gnomAD v4: 11-67611411-AC-A
• MyVariant Identifiers: chr11:g.67378883del (hg19) ; chr11:g.67611412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611412del , CM000673.2:g.67611412del	GRCh38
NC_000011.9:g.67378883del , CM000673.1:g.67378883del	GRCh37
NC_000011.8:g.67135459del	NCBI36
NG_013353.1:g.9561del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.923del MANE Select	ENSP00000322450.6:p.Thr308ArgfsTer10
ENST00000647561.1:c.923del	ENSP00000497587.1:p.Thr308ArgfsTer10
ENST00000322776.10:c.923del	ENSP00000322450.6:p.Thr308ArgfsTer10
ENST00000415352.6:c.902del	ENSP00000395368.2:p.Thr301ArgfsTer10
ENST00000526169.1:n.656-110del
ENST00000526770.5:n.1206del
ENST00000527355.5:c.212del	ENSP00000432637.1:p.Thr71ArgfsTer10
ENST00000527923.1:n.265del
ENST00000529927.5:c.896del	ENSP00000436766.1:p.Thr299ArgfsTer10
ENST00000532303.5:c.620del	ENSP00000432015.1:p.Thr207ArgfsTer10
ENST00000533919.5:c.392-65del	ENSP00000435199.1:n.392-65del
NM_001166102.1:c.896del	NP_001159574.1:p.Thr299ArgfsTer10
NM_007103.3:c.923del	NP_009034.2:p.Thr308ArgfsTer10
NM_001166102.2:c.896del	NP_001159574.1:p.Thr299ArgfsTer10
NM_007103.4:c.923del MANE Select	NP_009034.2:p.Thr308ArgfsTer10