Canonical Allele Identifier: CA381537259

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2249012
• ClinVar RCV Id: RCV002767559
• MyVariant Identifiers: chr11:g.67378003G>A (hg19) ; chr11:g.67610532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610532G>A , CM000673.2:g.67610532G>A	GRCh38
NC_000011.9:g.67378003G>A , CM000673.1:g.67378003G>A	GRCh37
NC_000011.8:g.67134579G>A	NCBI36
NG_013353.1:g.8681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.662G>A MANE Select	ENSP00000322450.6:p.Gly221Asp
ENST00000647561.1:c.662G>A	ENSP00000497587.1:p.Gly221Asp
ENST00000322776.10:c.662G>A	ENSP00000322450.6:p.Gly221Asp
ENST00000415352.6:c.641G>A	ENSP00000395368.2:p.Gly214Asp
ENST00000526169.1:n.404G>A
ENST00000526770.5:n.521G>A
ENST00000529927.5:c.635G>A	ENSP00000436766.1:p.Gly212Asp
ENST00000532244.5:c.359G>A	ENSP00000435202.1:p.Gly120Asp
ENST00000532303.5:c.359G>A	ENSP00000432015.1:p.Gly120Asp
ENST00000533919.5:c.140G>A	ENSP00000435199.1:p.Gly47Asp
NM_001166102.1:c.635G>A	NP_001159574.1:p.Gly212Asp
NM_007103.3:c.662G>A	NP_009034.2:p.Gly221Asp
NM_001166102.2:c.635G>A	NP_001159574.1:p.Gly212Asp
NM_007103.4:c.662G>A MANE Select	NP_009034.2:p.Gly221Asp