Canonical Allele Identifier: CA6143212

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 305747
• ClinVar RCV Id: RCV000321979 ; RCV000383441 ; RCV000523777
• dbSNP Id: rs142982022
• ExAC: 11:67377904 G / A
• gnomAD v2: 11-67377904-G-A
• gnomAD v3: 11-67610433-G-A
• gnomAD v4: 11-67610433-G-A
• MyVariant Identifiers: chr11:g.67377904G>A (hg19) ; chr11:g.67610433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610433G>A , CM000673.2:g.67610433G>A	GRCh38
NC_000011.9:g.67377904G>A , CM000673.1:g.67377904G>A	GRCh37
NC_000011.8:g.67134480G>A	NCBI36
NG_013353.1:g.8582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.563G>A MANE Select	ENSP00000322450.6:p.Gly188Asp
ENST00000647561.1:c.563G>A	ENSP00000497587.1:p.Gly188Asp
ENST00000322776.10:c.563G>A	ENSP00000322450.6:p.Gly188Asp
ENST00000415352.6:c.542G>A	ENSP00000395368.2:p.Gly181Asp
ENST00000526169.1:n.305G>A
ENST00000526770.5:n.422G>A
ENST00000529867.5:c.527G>A	ENSP00000434438.1:p.Gly176Asp
ENST00000529927.5:c.536G>A	ENSP00000436766.1:p.Gly179Asp
ENST00000532244.5:c.260G>A	ENSP00000435202.1:p.Gly87Asp
ENST00000532303.5:c.260G>A	ENSP00000432015.1:p.Gly87Asp
ENST00000532343.5:c.260G>A	ENSP00000431751.1:p.Gly87Asp
ENST00000533919.5:c.41G>A	ENSP00000435199.1:p.Gly14Asp
NM_001166102.1:c.536G>A	NP_001159574.1:p.Gly179Asp
NM_007103.3:c.563G>A	NP_009034.2:p.Gly188Asp
NM_001166102.2:c.536G>A	NP_001159574.1:p.Gly179Asp
NM_007103.4:c.563G>A MANE Select	NP_009034.2:p.Gly188Asp