Canonical Allele Identifier: CA381540496

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1850402749
• gnomAD v3: 11-67611422-G-A
• gnomAD v4: 11-67611422-G-A
• MyVariant Identifiers: chr11:g.67378893G>A (hg19) ; chr11:g.67611422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611422G>A , CM000673.2:g.67611422G>A	GRCh38
NC_000011.9:g.67378893G>A , CM000673.1:g.67378893G>A	GRCh37
NC_000011.8:g.67135469G>A	NCBI36
NG_013353.1:g.9571G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.933G>A MANE Select	ENSP00000322450.6:p.Trp311Ter
ENST00000647561.1:c.933G>A	ENSP00000497587.1:p.Trp311Ter
ENST00000322776.10:c.933G>A	ENSP00000322450.6:p.Trp311Ter
ENST00000415352.6:c.912G>A	ENSP00000395368.2:p.Trp304Ter
ENST00000526169.1:n.656-100G>A
ENST00000526770.5:n.1216G>A
ENST00000527355.5:c.222G>A	ENSP00000432637.1:p.Trp74Ter
ENST00000527923.1:n.275G>A
ENST00000529927.5:c.906G>A	ENSP00000436766.1:p.Trp302Ter
ENST00000532303.5:c.630G>A	ENSP00000432015.1:p.Trp210Ter
ENST00000533919.5:c.392-55G>A	ENSP00000435199.1:n.392-55G>A
NM_001166102.1:c.906G>A	NP_001159574.1:p.Trp302Ter
NM_007103.3:c.933G>A	NP_009034.2:p.Trp311Ter
NM_001166102.2:c.906G>A	NP_001159574.1:p.Trp302Ter
NM_007103.4:c.933G>A MANE Select	NP_009034.2:p.Trp311Ter