Canonical Allele Identifier: CA224181112

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 1335077
• ClinVar RCV Id: RCV001816106
• dbSNP Id: rs367890461
• gnomAD v3: 11-67611459-A-G
• gnomAD v4: 11-67611459-A-G
• MyVariant Identifiers: chr11:g.67378930A>G (hg19) ; chr11:g.67611459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611459A>G , CM000673.2:g.67611459A>G	GRCh38
NC_000011.9:g.67378930A>G , CM000673.1:g.67378930A>G	GRCh37
NC_000011.8:g.67135506A>G	NCBI36
NG_013353.1:g.9608A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.970A>G MANE Select	ENSP00000322450.6:p.Thr324Ala
ENST00000647561.1:c.970A>G	ENSP00000497587.1:p.Thr324Ala
ENST00000322776.10:c.970A>G	ENSP00000322450.6:p.Thr324Ala
ENST00000415352.6:c.949A>G	ENSP00000395368.2:p.Thr317Ala
ENST00000526169.1:n.656-63A>G
ENST00000526770.5:n.1253A>G
ENST00000527355.5:c.259A>G	ENSP00000432637.1:p.Thr87Ala
ENST00000527923.1:n.312A>G
ENST00000529927.5:c.943A>G	ENSP00000436766.1:p.Thr315Ala
ENST00000532303.5:c.667A>G	ENSP00000432015.1:p.Thr223Ala
ENST00000533919.5:c.392-18A>G	ENSP00000435199.1:n.392-18A>G
NM_001166102.1:c.943A>G	NP_001159574.1:p.Thr315Ala
NM_007103.3:c.970A>G	NP_009034.2:p.Thr324Ala
NM_001166102.2:c.943A>G	NP_001159574.1:p.Thr315Ala
NM_007103.4:c.970A>G MANE Select	NP_009034.2:p.Thr324Ala