Canonical Allele Identifier: CA6143235

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2479216
• ClinVar RCV Id: RCV003199312
• dbSNP Id: rs779705148
• ExAC: 11:67378005 A / G
• gnomAD v2: 11-67378005-A-G
• gnomAD v3: 11-67610534-A-G
• gnomAD v4: 11-67610534-A-G
• MyVariant Identifiers: chr11:g.67378005A>G (hg19) ; chr11:g.67610534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610534A>G , CM000673.2:g.67610534A>G	GRCh38
NC_000011.9:g.67378005A>G , CM000673.1:g.67378005A>G	GRCh37
NC_000011.8:g.67134581A>G	NCBI36
NG_013353.1:g.8683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.664A>G MANE Select	ENSP00000322450.6:p.Lys222Glu
ENST00000647561.1:c.664A>G	ENSP00000497587.1:p.Lys222Glu
ENST00000322776.10:c.664A>G	ENSP00000322450.6:p.Lys222Glu
ENST00000415352.6:c.643A>G	ENSP00000395368.2:p.Lys215Glu
ENST00000526169.1:n.406A>G
ENST00000526770.5:n.523A>G
ENST00000529927.5:c.637A>G	ENSP00000436766.1:p.Lys213Glu
ENST00000532244.5:c.361A>G	ENSP00000435202.1:p.Lys121Glu
ENST00000532303.5:c.361A>G	ENSP00000432015.1:p.Lys121Glu
ENST00000533919.5:c.142A>G	ENSP00000435199.1:p.Lys48Glu
NM_001166102.1:c.637A>G	NP_001159574.1:p.Lys213Glu
NM_007103.3:c.664A>G	NP_009034.2:p.Lys222Glu
NM_001166102.2:c.637A>G	NP_001159574.1:p.Lys213Glu
NM_007103.4:c.664A>G MANE Select	NP_009034.2:p.Lys222Glu