Canonical Allele Identifier: CA6143364

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 516389
• ClinVar RCV Id: RCV001719093
• dbSNP Id: rs750833433
• ExAC: 11:67378983 G / A
• gnomAD v2: 11-67378983-G-A
• gnomAD v3: 11-67611512-G-A
• gnomAD v4: 11-67611512-G-A
• MyVariant Identifiers: chr11:g.67378983G>A (hg19) ; chr11:g.67611512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611512G>A , CM000673.2:g.67611512G>A	GRCh38
NC_000011.9:g.67378983G>A , CM000673.1:g.67378983G>A	GRCh37
NC_000011.8:g.67135559G>A	NCBI36
NG_013353.1:g.9661G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1023G>A MANE Select	ENSP00000322450.6:p.Ala341=
ENST00000647561.1:c.1023G>A	ENSP00000497587.1:p.Ala341=
ENST00000322776.10:c.1023G>A	ENSP00000322450.6:p.Ala341=
ENST00000415352.6:c.1002G>A	ENSP00000395368.2:p.Ala334=
ENST00000526169.1:n.656-10G>A
ENST00000526770.5:n.1306G>A
ENST00000527355.5:c.312G>A	ENSP00000432637.1:p.Ala104=
ENST00000527923.1:n.365G>A
ENST00000529927.5:c.996G>A	ENSP00000436766.1:p.Ala332=
ENST00000532303.5:c.720G>A	ENSP00000432015.1:p.Ala240=
ENST00000533919.5:c.427G>A	ENSP00000435199.1:n.427G>A
NM_001166102.1:c.996G>A	NP_001159574.1:p.Ala332=
NM_007103.3:c.1023G>A	NP_009034.2:p.Ala341=
NM_001166102.2:c.996G>A	NP_001159574.1:p.Ala332=
NM_007103.4:c.1023G>A MANE Select	NP_009034.2:p.Ala341=