Canonical Allele Identifier: CA381540815

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378952T>A (hg19) ; chr11:g.67611481T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611481T>A , CM000673.2:g.67611481T>A	GRCh38
NC_000011.9:g.67378952T>A , CM000673.1:g.67378952T>A	GRCh37
NC_000011.8:g.67135528T>A	NCBI36
NG_013353.1:g.9630T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.992T>A MANE Select	ENSP00000322450.6:p.Val331Glu
ENST00000647561.1:c.992T>A	ENSP00000497587.1:p.Val331Glu
ENST00000322776.10:c.992T>A	ENSP00000322450.6:p.Val331Glu
ENST00000415352.6:c.971T>A	ENSP00000395368.2:p.Val324Glu
ENST00000526169.1:n.656-41T>A
ENST00000526770.5:n.1275T>A
ENST00000527355.5:c.281T>A	ENSP00000432637.1:p.Val94Glu
ENST00000527923.1:n.334T>A
ENST00000529927.5:c.965T>A	ENSP00000436766.1:p.Val322Glu
ENST00000532303.5:c.689T>A	ENSP00000432015.1:p.Val230Glu
ENST00000533919.5:c.396T>A	ENSP00000435199.1:p.Cys132Ter
NM_001166102.1:c.965T>A	NP_001159574.1:p.Val322Glu
NM_007103.3:c.992T>A	NP_009034.2:p.Val331Glu
NM_001166102.2:c.965T>A	NP_001159574.1:p.Val322Glu
NM_007103.4:c.992T>A MANE Select	NP_009034.2:p.Val331Glu