Canonical Allele Identifier: CA381540946

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378979A>T (hg19) ; chr11:g.67611508A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611508A>T , CM000673.2:g.67611508A>T	GRCh38
NC_000011.9:g.67378979A>T , CM000673.1:g.67378979A>T	GRCh37
NC_000011.8:g.67135555A>T	NCBI36
NG_013353.1:g.9657A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1019A>T MANE Select	ENSP00000322450.6:p.Asp340Val
ENST00000647561.1:c.1019A>T	ENSP00000497587.1:p.Asp340Val
ENST00000322776.10:c.1019A>T	ENSP00000322450.6:p.Asp340Val
ENST00000415352.6:c.998A>T	ENSP00000395368.2:p.Asp333Val
ENST00000526169.1:n.656-14A>T
ENST00000526770.5:n.1302A>T
ENST00000527355.5:c.308A>T	ENSP00000432637.1:p.Asp103Val
ENST00000527923.1:n.361A>T
ENST00000529927.5:c.992A>T	ENSP00000436766.1:p.Asp331Val
ENST00000532303.5:c.716A>T	ENSP00000432015.1:p.Asp239Val
ENST00000533919.5:c.423A>T	ENSP00000435199.1:n.423A>T
NM_001166102.1:c.992A>T	NP_001159574.1:p.Asp331Val
NM_007103.3:c.1019A>T	NP_009034.2:p.Asp340Val
NM_001166102.2:c.992A>T	NP_001159574.1:p.Asp331Val
NM_007103.4:c.1019A>T MANE Select	NP_009034.2:p.Asp340Val