Canonical Allele Identifier: CA6143466

Gene: NDUFV1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67612226G>A , CM000673.2:g.67612226G>A	GRCh38
NC_000011.9:g.67379697G>A , CM000673.1:g.67379697G>A	GRCh37
NC_000011.8:g.67136273G>A	NCBI36
NG_013353.1:g.10375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1269G>A MANE Select	ENSP00000322450.6:p.Thr423=
ENST00000647561.1:c.1269G>A	ENSP00000497587.1:p.Thr423=
ENST00000322776.10:c.1269G>A	ENSP00000322450.6:p.Thr423=
ENST00000415352.6:c.1248G>A	ENSP00000395368.2:p.Thr416=
ENST00000526770.5:n.1552G>A
ENST00000527355.5:c.476G>A	ENSP00000432637.1:n.476G>A
ENST00000529927.5:c.1242G>A	ENSP00000436766.1:p.Thr414=
ENST00000531250.1:n.533G>A
ENST00000532303.5:c.966G>A	ENSP00000432015.1:p.Thr322=
ENST00000533919.5:c.673G>A	ENSP00000435199.1:n.673G>A
ENST00000534352.1:n.508G>A
NM_001166102.1:c.1242G>A	NP_001159574.1:p.Thr414=
NM_007103.3:c.1269G>A	NP_009034.2:p.Thr423=
NM_001166102.2:c.1242G>A	NP_001159574.1:p.Thr414=
NM_007103.4:c.1269G>A MANE Select	NP_009034.2:p.Thr423=