Canonical Allele Identifier: CA6143400

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2571835
• ClinVar RCV Id: RCV003313544
• dbSNP Id: rs771200094
• ExAC: 11:67379370 G / A
• gnomAD v2: 11-67379370-G-A
• gnomAD v4: 11-67611899-G-A
• MyVariant Identifiers: chr11:g.67379370G>A (hg19) ; chr11:g.67611899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611899G>A , CM000673.2:g.67611899G>A	GRCh38
NC_000011.9:g.67379370G>A , CM000673.1:g.67379370G>A	GRCh37
NC_000011.8:g.67135946G>A	NCBI36
NG_013353.1:g.10048G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1083G>A MANE Select	ENSP00000322450.6:p.Thr361=
ENST00000647561.1:c.1083G>A	ENSP00000497587.1:p.Thr361=
ENST00000322776.10:c.1083G>A	ENSP00000322450.6:p.Thr361=
ENST00000415352.6:c.1062G>A	ENSP00000395368.2:p.Thr354=
ENST00000526169.1:n.706G>A
ENST00000526770.5:n.1366G>A
ENST00000527355.5:c.370-221G>A	ENSP00000432637.1:n.370-221G>A
ENST00000527923.1:n.425G>A
ENST00000529927.5:c.1056G>A	ENSP00000436766.1:p.Thr352=
ENST00000531250.1:n.347G>A
ENST00000532303.5:c.780G>A	ENSP00000432015.1:p.Thr260=
ENST00000533919.5:c.487G>A	ENSP00000435199.1:n.487G>A
ENST00000534352.1:n.181G>A
NM_001166102.1:c.1056G>A	NP_001159574.1:p.Thr352=
NM_007103.3:c.1083G>A	NP_009034.2:p.Thr361=
NM_001166102.2:c.1056G>A	NP_001159574.1:p.Thr352=
NM_007103.4:c.1083G>A MANE Select	NP_009034.2:p.Thr361=