Canonical Allele Identifier: CA381540484

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 880211
• ClinVar RCV Id: RCV001108321 ; RCV001108322
• dbSNP Id: rs1432435322
• gnomAD v2: 11-67378889-G-T
• gnomAD v4: 11-67611418-G-T
• MyVariant Identifiers: chr11:g.67378889G>T (hg19) ; chr11:g.67611418G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611418G>T , CM000673.2:g.67611418G>T	GRCh38
NC_000011.9:g.67378889G>T , CM000673.1:g.67378889G>T	GRCh37
NC_000011.8:g.67135465G>T	NCBI36
NG_013353.1:g.9567G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.929G>T MANE Select	ENSP00000322450.6:p.Gly310Val
ENST00000647561.1:c.929G>T	ENSP00000497587.1:p.Gly310Val
ENST00000322776.10:c.929G>T	ENSP00000322450.6:p.Gly310Val
ENST00000415352.6:c.908G>T	ENSP00000395368.2:p.Gly303Val
ENST00000526169.1:n.656-104G>T
ENST00000526770.5:n.1212G>T
ENST00000527355.5:c.218G>T	ENSP00000432637.1:p.Gly73Val
ENST00000527923.1:n.271G>T
ENST00000529927.5:c.902G>T	ENSP00000436766.1:p.Gly301Val
ENST00000532303.5:c.626G>T	ENSP00000432015.1:p.Gly209Val
ENST00000533919.5:c.392-59G>T	ENSP00000435199.1:n.392-59G>T
NM_001166102.1:c.902G>T	NP_001159574.1:p.Gly301Val
NM_007103.3:c.929G>T	NP_009034.2:p.Gly310Val
NM_001166102.2:c.902G>T	NP_001159574.1:p.Gly301Val
NM_007103.4:c.929G>T MANE Select	NP_009034.2:p.Gly310Val