Canonical Allele Identifier: CA381537729

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2858201
• ClinVar RCV Id: RCV003699246
• dbSNP Id: rs1854894724
• MyVariant Identifiers: chr11:g.67378052G>A (hg19) ; chr11:g.67610581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610581G>A , CM000673.2:g.67610581G>A	GRCh38
NC_000011.9:g.67378052G>A , CM000673.1:g.67378052G>A	GRCh37
NC_000011.8:g.67134628G>A	NCBI36
NG_013353.1:g.8730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.700+11G>A MANE Select	ENSP00000322450.6:n.700+11G>A
ENST00000647561.1:c.700+11G>A	ENSP00000497587.1:n.700+11G>A
ENST00000322776.10:c.700+11G>A	ENSP00000322450.6:n.700+11G>A
ENST00000415352.6:c.679+11G>A	ENSP00000395368.2:n.679+11G>A
ENST00000526169.1:n.442+11G>A
ENST00000526770.5:n.570G>A
ENST00000529927.5:c.673+11G>A	ENSP00000436766.1:n.673+11G>A
ENST00000532244.5:c.408G>A	ENSP00000435202.1:p.Trp136Ter
ENST00000532303.5:c.397+11G>A	ENSP00000432015.1:n.397+11G>A
ENST00000533919.5:c.178+11G>A	ENSP00000435199.1:n.178+11G>A
NM_001166102.1:c.673+11G>A	NP_001159574.1:n.673+11G>A
NM_007103.3:c.700+11G>A	NP_009034.2:n.700+11G>A
NM_001166102.2:c.673+11G>A	NP_001159574.1:n.673+11G>A
NM_007103.4:c.700+11G>A MANE Select	NP_009034.2:n.700+11G>A