Canonical Allele Identifier: CA381540564

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378906G>A (hg19) ; chr11:g.67611435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611435G>A , CM000673.2:g.67611435G>A	GRCh38
NC_000011.9:g.67378906G>A , CM000673.1:g.67378906G>A	GRCh37
NC_000011.8:g.67135482G>A	NCBI36
NG_013353.1:g.9584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.946G>A MANE Select	ENSP00000322450.6:p.Ala316Thr
ENST00000647561.1:c.946G>A	ENSP00000497587.1:p.Ala316Thr
ENST00000322776.10:c.946G>A	ENSP00000322450.6:p.Ala316Thr
ENST00000415352.6:c.925G>A	ENSP00000395368.2:p.Ala309Thr
ENST00000526169.1:n.656-87G>A
ENST00000526770.5:n.1229G>A
ENST00000527355.5:c.235G>A	ENSP00000432637.1:p.Ala79Thr
ENST00000527923.1:n.288G>A
ENST00000529927.5:c.919G>A	ENSP00000436766.1:p.Ala307Thr
ENST00000532303.5:c.643G>A	ENSP00000432015.1:p.Ala215Thr
ENST00000533919.5:c.392-42G>A	ENSP00000435199.1:n.392-42G>A
NM_001166102.1:c.919G>A	NP_001159574.1:p.Ala307Thr
NM_007103.3:c.946G>A	NP_009034.2:p.Ala316Thr
NM_001166102.2:c.919G>A	NP_001159574.1:p.Ala307Thr
NM_007103.4:c.946G>A MANE Select	NP_009034.2:p.Ala316Thr