Canonical Allele Identifier: CA6143396

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2972962
• ClinVar RCV Id: RCV003838072
• dbSNP Id: rs763054774
• ExAC: 11:67379359 G / A
• gnomAD v2: 11-67379359-G-A
• gnomAD v3: 11-67611888-G-A
• gnomAD v4: 11-67611888-G-A
• MyVariant Identifiers: chr11:g.67379359G>A (hg19) ; chr11:g.67611888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611888G>A , CM000673.2:g.67611888G>A	GRCh38
NC_000011.9:g.67379359G>A , CM000673.1:g.67379359G>A	GRCh37
NC_000011.8:g.67135935G>A	NCBI36
NG_013353.1:g.10037G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1081-9G>A MANE Select	ENSP00000322450.6:n.1081-9G>A
ENST00000647561.1:c.1081-9G>A	ENSP00000497587.1:n.1081-9G>A
ENST00000322776.10:c.1081-9G>A	ENSP00000322450.6:n.1081-9G>A
ENST00000415352.6:c.1060-9G>A	ENSP00000395368.2:n.1060-9G>A
ENST00000526169.1:n.704-9G>A
ENST00000526770.5:n.1364-9G>A
ENST00000527355.5:c.370-232G>A	ENSP00000432637.1:n.370-232G>A
ENST00000527923.1:n.423-9G>A
ENST00000529927.5:c.1054-9G>A	ENSP00000436766.1:n.1054-9G>A
ENST00000531250.1:n.336G>A
ENST00000532303.5:c.778-9G>A	ENSP00000432015.1:n.778-9G>A
ENST00000533919.5:c.485-9G>A	ENSP00000435199.1:n.485-9G>A
ENST00000534352.1:n.170G>A
NM_001166102.1:c.1054-9G>A	NP_001159574.1:n.1054-9G>A
NM_007103.3:c.1081-9G>A	NP_009034.2:n.1081-9G>A
NM_001166102.2:c.1054-9G>A	NP_001159574.1:n.1054-9G>A
NM_007103.4:c.1081-9G>A MANE Select	NP_009034.2:n.1081-9G>A