Canonical Allele Identifier: CA6143398

Gene: NDUFV1

Linked Data

• dbSNP Id: rs773250846
• ExAC: 11:67379368 A / G
• gnomAD v2: 11-67379368-A-G
• gnomAD v3: 11-67611897-A-G
• gnomAD v4: 11-67611897-A-G
• MyVariant Identifiers: chr11:g.67379368A>G (hg19) ; chr11:g.67611897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611897A>G , CM000673.2:g.67611897A>G	GRCh38
NC_000011.9:g.67379368A>G , CM000673.1:g.67379368A>G	GRCh37
NC_000011.8:g.67135944A>G	NCBI36
NG_013353.1:g.10046A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1081A>G MANE Select	ENSP00000322450.6:p.Thr361Ala
ENST00000647561.1:c.1081A>G	ENSP00000497587.1:p.Thr361Ala
ENST00000322776.10:c.1081A>G	ENSP00000322450.6:p.Thr361Ala
ENST00000415352.6:c.1060A>G	ENSP00000395368.2:p.Thr354Ala
ENST00000526169.1:n.704A>G
ENST00000526770.5:n.1364A>G
ENST00000527355.5:c.370-223A>G	ENSP00000432637.1:n.370-223A>G
ENST00000527923.1:n.423A>G
ENST00000529927.5:c.1054A>G	ENSP00000436766.1:p.Thr352Ala
ENST00000531250.1:n.345A>G
ENST00000532303.5:c.778A>G	ENSP00000432015.1:p.Thr260Ala
ENST00000533919.5:c.485A>G	ENSP00000435199.1:n.485A>G
ENST00000534352.1:n.179A>G
NM_001166102.1:c.1054A>G	NP_001159574.1:p.Thr352Ala
NM_007103.3:c.1081A>G	NP_009034.2:p.Thr361Ala
NM_001166102.2:c.1054A>G	NP_001159574.1:p.Thr352Ala
NM_007103.4:c.1081A>G MANE Select	NP_009034.2:p.Thr361Ala