Canonical Allele Identifier: CA6143155

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 305744
• ClinVar RCV Id: RCV000275192 ; RCV000367341 ; RCV000444047 ; RCV000880288 ; RCV004544517
• dbSNP Id: rs140445386
• ExAC: 11:67376962 G / A
• gnomAD v2: 11-67376962-G-A
• gnomAD v3: 11-67609491-G-A
• gnomAD v4: 11-67609491-G-A
• MyVariant Identifiers: chr11:g.67376962G>A (hg19) ; chr11:g.67609491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609491G>A , CM000673.2:g.67609491G>A	GRCh38
NC_000011.9:g.67376962G>A , CM000673.1:g.67376962G>A	GRCh37
NC_000011.8:g.67133538G>A	NCBI36
NG_013353.1:g.7640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.366G>A MANE Select	ENSP00000322450.6:p.Pro122=
ENST00000647561.1:c.366G>A	ENSP00000497587.1:p.Pro122=
ENST00000322776.10:c.366G>A	ENSP00000322450.6:p.Pro122=
ENST00000415352.6:c.345G>A	ENSP00000395368.2:p.Pro115=
ENST00000524838.5:n.423G>A
ENST00000525086.5:n.439G>A
ENST00000526169.1:n.108G>A
ENST00000526770.5:n.225G>A
ENST00000528314.1:c.63G>A	ENSP00000434581.1:p.Pro21=
ENST00000528377.1:n.537G>A
ENST00000529867.5:c.330G>A	ENSP00000434438.1:p.Pro110=
ENST00000529927.5:c.339G>A	ENSP00000436766.1:p.Pro113=
ENST00000530014.5:n.661G>A
ENST00000530103.5:c.*260G>A	ENSP00000434575.1:n.*260G>A
ENST00000530638.1:c.249G>A	ENSP00000436936.1:p.Pro83=
ENST00000532244.5:c.63G>A	ENSP00000435202.1:p.Pro21=
ENST00000532303.5:c.63G>A	ENSP00000432015.1:p.Pro21=
ENST00000532343.5:c.63G>A	ENSP00000431751.1:p.Pro21=
ENST00000533075.5:c.345G>A	ENSP00000437267.1:p.Pro115=
ENST00000534139.5:n.482G>A
NM_001166102.1:c.339G>A	NP_001159574.1:p.Pro113=
NM_007103.3:c.366G>A	NP_009034.2:p.Pro122=
NM_001166102.2:c.339G>A	NP_001159574.1:p.Pro113=
NM_007103.4:c.366G>A MANE Select	NP_009034.2:p.Pro122=