Canonical Allele Identifier: CA6143347

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 1528620
• ClinVar RCV Id: RCV002077570
• dbSNP Id: rs139894497
• ExAC: 11:67378920 C / A
• gnomAD v2: 11-67378920-C-A
• gnomAD v4: 11-67611449-C-A
• MyVariant Identifiers: chr11:g.67378920C>A (hg19) ; chr11:g.67611449C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611449C>A , CM000673.2:g.67611449C>A	GRCh38
NC_000011.9:g.67378920C>A , CM000673.1:g.67378920C>A	GRCh37
NC_000011.8:g.67135496C>A	NCBI36
NG_013353.1:g.9598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.960C>A MANE Select	ENSP00000322450.6:p.Gly320=
ENST00000647561.1:c.960C>A	ENSP00000497587.1:p.Gly320=
ENST00000322776.10:c.960C>A	ENSP00000322450.6:p.Gly320=
ENST00000415352.6:c.939C>A	ENSP00000395368.2:p.Gly313=
ENST00000526169.1:n.656-73C>A
ENST00000526770.5:n.1243C>A
ENST00000527355.5:c.249C>A	ENSP00000432637.1:p.Gly83=
ENST00000527923.1:n.302C>A
ENST00000529927.5:c.933C>A	ENSP00000436766.1:p.Gly311=
ENST00000532303.5:c.657C>A	ENSP00000432015.1:p.Gly219=
ENST00000533919.5:c.392-28C>A	ENSP00000435199.1:n.392-28C>A
NM_001166102.1:c.933C>A	NP_001159574.1:p.Gly311=
NM_007103.3:c.960C>A	NP_009034.2:p.Gly320=
NM_001166102.2:c.933C>A	NP_001159574.1:p.Gly311=
NM_007103.4:c.960C>A MANE Select	NP_009034.2:p.Gly320=