Canonical Allele Identifier: CA6143135

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 305742
• ClinVar RCV Id: RCV000307097 ; RCV000363981 ; RCV002056232
• dbSNP Id: rs184136353
• ExAC: 11:67376205 G / A
• gnomAD v2: 11-67376205-G-A
• gnomAD v3: 11-67608734-G-A
• gnomAD v4: 11-67608734-G-A
• MyVariant Identifiers: chr11:g.67376205G>A (hg19) ; chr11:g.67608734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67608734G>A , CM000673.2:g.67608734G>A	GRCh38
NC_000011.9:g.67376205G>A , CM000673.1:g.67376205G>A	GRCh37
NC_000011.8:g.67132781G>A	NCBI36
NG_013353.1:g.6883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.326+12G>A MANE Select	ENSP00000322450.6:n.326+12G>A
ENST00000647561.1:c.326+12G>A	ENSP00000497587.1:n.326+12G>A
ENST00000322776.10:c.326+12G>A	ENSP00000322450.6:n.326+12G>A
ENST00000415352.6:c.305+12G>A	ENSP00000395368.2:n.305+12G>A
ENST00000524838.5:n.383+12G>A
ENST00000525086.5:n.373+12G>A
ENST00000526169.1:n.68+12G>A
ENST00000526770.5:n.185+12G>A
ENST00000528314.1:c.23+12G>A	ENSP00000434581.1:n.23+12G>A
ENST00000528377.1:n.497+12G>A
ENST00000529867.5:c.290+12G>A	ENSP00000434438.1:n.290+12G>A
ENST00000529927.5:c.299+12G>A	ENSP00000436766.1:n.299+12G>A
ENST00000530014.5:n.621+12G>A
ENST00000530103.5:c.*220+12G>A	ENSP00000434575.1:n.*220+12G>A
ENST00000530638.1:c.209+12G>A	ENSP00000436936.1:n.209+12G>A
ENST00000532244.5:c.23+12G>A	ENSP00000435202.1:n.23+12G>A
ENST00000532303.5:c.23+12G>A	ENSP00000432015.1:n.23+12G>A
ENST00000532343.5:c.23+12G>A	ENSP00000431751.1:n.23+12G>A
ENST00000533075.5:c.305+12G>A	ENSP00000437267.1:n.305+12G>A
ENST00000534139.5:n.442+12G>A
NM_001166102.1:c.299+12G>A	NP_001159574.1:n.299+12G>A
NM_007103.3:c.326+12G>A	NP_009034.2:n.326+12G>A
NM_001166102.2:c.299+12G>A	NP_001159574.1:n.299+12G>A
NM_007103.4:c.326+12G>A MANE Select	NP_009034.2:n.326+12G>A