Canonical Allele Identifier: CA6143081

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 521516
• ClinVar RCV Id: RCV000624727 ; RCV001333607 ; RCV001860446
• dbSNP Id: rs141502688
• ExAC: 11:67375913 G / A
• gnomAD v2: 11-67375913-G-A
• gnomAD v3: 11-67608442-G-A
• gnomAD v4: 11-67608442-G-A
• MyVariant Identifiers: chr11:g.67375913G>A (hg19) ; chr11:g.67608442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67608442G>A , CM000673.2:g.67608442G>A	GRCh38
NC_000011.9:g.67375913G>A , CM000673.1:g.67375913G>A	GRCh37
NC_000011.8:g.67132489G>A	NCBI36
NG_013353.1:g.6591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.119G>A MANE Select	ENSP00000322450.6:p.Arg40Gln
ENST00000647561.1:c.119G>A	ENSP00000497587.1:p.Arg40Gln
ENST00000322776.10:c.119G>A	ENSP00000322450.6:p.Arg40Gln
ENST00000415352.6:c.98G>A	ENSP00000395368.2:p.Arg33Gln
ENST00000524838.5:n.176G>A
ENST00000524876.5:n.431G>A
ENST00000525086.5:n.166G>A
ENST00000526138.5:n.481G>A
ENST00000528314.1:c.-185G>A	ENSP00000434581.1:n.-185G>A
ENST00000528328.1:c.68G>A	ENSP00000436906.1:p.Arg23Gln
ENST00000528377.1:n.217G>A
ENST00000528548.5:n.488G>A
ENST00000529867.5:c.83G>A	ENSP00000434438.1:p.Arg28Gln
ENST00000529927.5:c.92G>A	ENSP00000436766.1:p.Arg31Gln
ENST00000530014.5:n.414G>A
ENST00000530103.5:c.*13G>A	ENSP00000434575.1:n.*13G>A
ENST00000530638.1:c.10G>A	ENSP00000436936.1:p.Gly4Arg
ENST00000532244.5:c.-185G>A	ENSP00000435202.1:n.-185G>A
ENST00000532303.5:c.-148-110G>A	ENSP00000432015.1:n.-148-110G>A
ENST00000532343.5:c.-185G>A	ENSP00000431751.1:n.-185G>A
ENST00000533075.5:c.119G>A	ENSP00000437267.1:p.Arg40Gln
ENST00000534139.5:n.162G>A
NM_001166102.1:c.92G>A	NP_001159574.1:p.Arg31Gln
NM_007103.3:c.119G>A	NP_009034.2:p.Arg40Gln
NM_001166102.2:c.92G>A	NP_001159574.1:p.Arg31Gln
NM_007103.4:c.119G>A MANE Select	NP_009034.2:p.Arg40Gln