Canonical Allele Identifier: CA224180110

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 3004814
• ClinVar RCV Id: RCV003860917
• dbSNP Id: rs10896187
• gnomAD v4: 11-67610419-C-A
• MyVariant Identifiers: chr11:g.67377890C>A (hg19) ; chr11:g.67610419C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610419C>A , CM000673.2:g.67610419C>A	GRCh38
NC_000011.9:g.67377890C>A , CM000673.1:g.67377890C>A	GRCh37
NC_000011.8:g.67134466C>A	NCBI36
NG_013353.1:g.8568C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.549C>A MANE Select	ENSP00000322450.6:p.Gly183=
ENST00000647561.1:c.549C>A	ENSP00000497587.1:p.Gly183=
ENST00000322776.10:c.549C>A	ENSP00000322450.6:p.Gly183=
ENST00000415352.6:c.528C>A	ENSP00000395368.2:p.Gly176=
ENST00000526169.1:n.291C>A
ENST00000526770.5:n.408C>A
ENST00000529867.5:c.513C>A	ENSP00000434438.1:p.Gly171=
ENST00000529927.5:c.522C>A	ENSP00000436766.1:p.Gly174=
ENST00000530638.1:c.432C>A	ENSP00000436936.1:p.Gly144=
ENST00000532244.5:c.246C>A	ENSP00000435202.1:p.Gly82=
ENST00000532303.5:c.246C>A	ENSP00000432015.1:p.Gly82=
ENST00000532343.5:c.246C>A	ENSP00000431751.1:p.Gly82=
ENST00000533075.5:c.528C>A	ENSP00000437267.1:p.Gly176=
ENST00000533919.5:c.27C>A	ENSP00000435199.1:p.Gly9=
NM_001166102.1:c.522C>A	NP_001159574.1:p.Gly174=
NM_007103.3:c.549C>A	NP_009034.2:p.Gly183=
NM_001166102.2:c.522C>A	NP_001159574.1:p.Gly174=
NM_007103.4:c.549C>A MANE Select	NP_009034.2:p.Gly183=