Canonical Allele Identifier: CA6143394

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 3009846
• ClinVar RCV Id: RCV003864957
• dbSNP Id: rs769770883
• ExAC: 11:67379348 A / G
• gnomAD v2: 11-67379348-A-G
• gnomAD v3: 11-67611877-A-G
• gnomAD v4: 11-67611877-A-G
• MyVariant Identifiers: chr11:g.67379348A>G (hg19) ; chr11:g.67611877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611877A>G , CM000673.2:g.67611877A>G	GRCh38
NC_000011.9:g.67379348A>G , CM000673.1:g.67379348A>G	GRCh37
NC_000011.8:g.67135924A>G	NCBI36
NG_013353.1:g.10026A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1081-20A>G MANE Select	ENSP00000322450.6:n.1081-20A>G
ENST00000647561.1:c.1081-20A>G	ENSP00000497587.1:n.1081-20A>G
ENST00000322776.10:c.1081-20A>G	ENSP00000322450.6:n.1081-20A>G
ENST00000415352.6:c.1060-20A>G	ENSP00000395368.2:n.1060-20A>G
ENST00000526169.1:n.704-20A>G
ENST00000526770.5:n.1364-20A>G
ENST00000527355.5:c.370-243A>G	ENSP00000432637.1:n.370-243A>G
ENST00000527923.1:n.423-20A>G
ENST00000529927.5:c.1054-20A>G	ENSP00000436766.1:n.1054-20A>G
ENST00000531250.1:n.325A>G
ENST00000532303.5:c.778-20A>G	ENSP00000432015.1:n.778-20A>G
ENST00000533919.5:c.485-20A>G	ENSP00000435199.1:n.485-20A>G
ENST00000534352.1:n.159A>G
NM_001166102.1:c.1054-20A>G	NP_001159574.1:n.1054-20A>G
NM_007103.3:c.1081-20A>G	NP_009034.2:n.1081-20A>G
NM_001166102.2:c.1054-20A>G	NP_001159574.1:n.1054-20A>G
NM_007103.4:c.1081-20A>G MANE Select	NP_009034.2:n.1081-20A>G