Canonical Allele Identifier: CA381536560

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 1801130
• ClinVar RCV Id: RCV002462727
• dbSNP Id: rs1413172141
• gnomAD v2: 11-67377882-C-G
• gnomAD v4: 11-67610411-C-G
• MyVariant Identifiers: chr11:g.67377882C>G (hg19) ; chr11:g.67610411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610411C>G , CM000673.2:g.67610411C>G	GRCh38
NC_000011.9:g.67377882C>G , CM000673.1:g.67377882C>G	GRCh37
NC_000011.8:g.67134458C>G	NCBI36
NG_013353.1:g.8560C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.541C>G MANE Select	ENSP00000322450.6:p.Leu181Val
ENST00000647561.1:c.541C>G	ENSP00000497587.1:p.Leu181Val
ENST00000322776.10:c.541C>G	ENSP00000322450.6:p.Leu181Val
ENST00000415352.6:c.520C>G	ENSP00000395368.2:p.Leu174Val
ENST00000526169.1:n.283C>G
ENST00000526770.5:n.400C>G
ENST00000529867.5:c.505C>G	ENSP00000434438.1:p.Leu169Val
ENST00000529927.5:c.514C>G	ENSP00000436766.1:p.Leu172Val
ENST00000530638.1:c.424C>G	ENSP00000436936.1:p.Leu142Val
ENST00000532244.5:c.238C>G	ENSP00000435202.1:p.Leu80Val
ENST00000532303.5:c.238C>G	ENSP00000432015.1:p.Leu80Val
ENST00000532343.5:c.238C>G	ENSP00000431751.1:p.Leu80Val
ENST00000533075.5:c.520C>G	ENSP00000437267.1:p.Leu174Val
ENST00000533919.5:c.19C>G	ENSP00000435199.1:p.Leu7Val
NM_001166102.1:c.514C>G	NP_001159574.1:p.Leu172Val
NM_007103.3:c.541C>G	NP_009034.2:p.Leu181Val
NM_001166102.2:c.514C>G	NP_001159574.1:p.Leu172Val
NM_007103.4:c.541C>G MANE Select	NP_009034.2:p.Leu181Val