Canonical Allele Identifier: CA939066109

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1854920472
• gnomAD v3: 11-67611748-C-CT
• gnomAD v4: 11-67611748-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611748_67611749insT , CM000673.2:g.67611748_67611749insT	GRCh38
NC_000011.9:g.67379219_67379220insT , CM000673.1:g.67379219_67379220insT	GRCh37
NC_000011.8:g.67135795_67135796insT	NCBI36
NG_013353.1:g.9897_9898insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1081-149_1081-148insT MANE Select	ENSP00000322450.6:n.1081-149_1081-148insT
ENST00000647561.1:c.1081-149_1081-148insT	ENSP00000497587.1:n.1081-149_1081-148insT
ENST00000322776.10:c.1081-149_1081-148insT	ENSP00000322450.6:n.1081-149_1081-148insT
ENST00000415352.6:c.1060-149_1060-148insT	ENSP00000395368.2:n.1060-149_1060-148insT
ENST00000526169.1:n.704-149_704-148insT
ENST00000526770.5:n.1364-149_1364-148insT
ENST00000527355.5:c.369+179_369+180insT	ENSP00000432637.1:n.369+179_369+180insT
ENST00000527923.1:n.423-149_423-148insT
ENST00000529927.5:c.1054-149_1054-148insT	ENSP00000436766.1:n.1054-149_1054-148insT
ENST00000531250.1:n.196_197insT
ENST00000532303.5:c.778-149_778-148insT	ENSP00000432015.1:n.778-149_778-148insT
ENST00000533919.5:c.485-149_485-148insT	ENSP00000435199.1:n.485-149_485-148insT
ENST00000534352.1:n.30_31insT
NM_001166102.1:c.1054-149_1054-148insT	NP_001159574.1:n.1054-149_1054-148insT
NM_007103.3:c.1081-149_1081-148insT	NP_009034.2:n.1081-149_1081-148insT
NM_001166102.2:c.1054-149_1054-148insT	NP_001159574.1:n.1054-149_1054-148insT
NM_007103.4:c.1081-149_1081-148insT MANE Select	NP_009034.2:n.1081-149_1081-148insT