Canonical Allele Identifier: CA381540934

Gene: NDUFV1

Linked Data

• dbSNP Id: rs371426372
• gnomAD v4: 11-67611506-C-G
• MyVariant Identifiers: chr11:g.67378977C>G (hg19) ; chr11:g.67611506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611506C>G , CM000673.2:g.67611506C>G	GRCh38
NC_000011.9:g.67378977C>G , CM000673.1:g.67378977C>G	GRCh37
NC_000011.8:g.67135553C>G	NCBI36
NG_013353.1:g.9655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1017C>G MANE Select	ENSP00000322450.6:p.Phe339Leu
ENST00000647561.1:c.1017C>G	ENSP00000497587.1:p.Phe339Leu
ENST00000322776.10:c.1017C>G	ENSP00000322450.6:p.Phe339Leu
ENST00000415352.6:c.996C>G	ENSP00000395368.2:p.Phe332Leu
ENST00000526169.1:n.656-16C>G
ENST00000526770.5:n.1300C>G
ENST00000527355.5:c.306C>G	ENSP00000432637.1:p.Phe102Leu
ENST00000527923.1:n.359C>G
ENST00000529927.5:c.990C>G	ENSP00000436766.1:p.Phe330Leu
ENST00000532303.5:c.714C>G	ENSP00000432015.1:p.Phe238Leu
ENST00000533919.5:c.421C>G	ENSP00000435199.1:n.421C>G
NM_001166102.1:c.990C>G	NP_001159574.1:p.Phe330Leu
NM_007103.3:c.1017C>G	NP_009034.2:p.Phe339Leu
NM_001166102.2:c.990C>G	NP_001159574.1:p.Phe330Leu
NM_007103.4:c.1017C>G MANE Select	NP_009034.2:p.Phe339Leu