Canonical Allele Identifier: CA381540938

Gene: NDUFV1

Linked Data

• COSMIC: COSM1746517
• MyVariant Identifiers: chr11:g.67378978G>T (hg19) ; chr11:g.67611507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611507G>T , CM000673.2:g.67611507G>T	GRCh38
NC_000011.9:g.67378978G>T , CM000673.1:g.67378978G>T	GRCh37
NC_000011.8:g.67135554G>T	NCBI36
NG_013353.1:g.9656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1018G>T MANE Select	ENSP00000322450.6:p.Asp340Tyr
ENST00000647561.1:c.1018G>T	ENSP00000497587.1:p.Asp340Tyr
ENST00000322776.10:c.1018G>T	ENSP00000322450.6:p.Asp340Tyr
ENST00000415352.6:c.997G>T	ENSP00000395368.2:p.Asp333Tyr
ENST00000526169.1:n.656-15G>T
ENST00000526770.5:n.1301G>T
ENST00000527355.5:c.307G>T	ENSP00000432637.1:p.Asp103Tyr
ENST00000527923.1:n.360G>T
ENST00000529927.5:c.991G>T	ENSP00000436766.1:p.Asp331Tyr
ENST00000532303.5:c.715G>T	ENSP00000432015.1:p.Asp239Tyr
ENST00000533919.5:c.422G>T	ENSP00000435199.1:n.422G>T
NM_001166102.1:c.991G>T	NP_001159574.1:p.Asp331Tyr
NM_007103.3:c.1018G>T	NP_009034.2:p.Asp340Tyr
NM_001166102.2:c.991G>T	NP_001159574.1:p.Asp331Tyr
NM_007103.4:c.1018G>T MANE Select	NP_009034.2:p.Asp340Tyr