Canonical Allele Identifier: CA224180418

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1032618256
• gnomAD v2: 11-67378070-C-G
• gnomAD v3: 11-67610599-C-G
• gnomAD v4: 11-67610599-C-G
• MyVariant Identifiers: chr11:g.67378070C>G (hg19) ; chr11:g.67610599C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610599C>G , CM000673.2:g.67610599C>G	GRCh38
NC_000011.9:g.67378070C>G , CM000673.1:g.67378070C>G	GRCh37
NC_000011.8:g.67134646C>G	NCBI36
NG_013353.1:g.8748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.700+29C>G MANE Select	ENSP00000322450.6:n.700+29C>G
ENST00000647561.1:c.700+29C>G	ENSP00000497587.1:n.700+29C>G
ENST00000322776.10:c.700+29C>G	ENSP00000322450.6:n.700+29C>G
ENST00000415352.6:c.679+29C>G	ENSP00000395368.2:n.679+29C>G
ENST00000526169.1:n.442+29C>G
ENST00000526770.5:n.588C>G
ENST00000529927.5:c.673+29C>G	ENSP00000436766.1:n.673+29C>G
ENST00000532303.5:c.397+29C>G	ENSP00000432015.1:n.397+29C>G
ENST00000533919.5:c.178+29C>G	ENSP00000435199.1:n.178+29C>G
NM_001166102.1:c.673+29C>G	NP_001159574.1:n.673+29C>G
NM_007103.3:c.700+29C>G	NP_009034.2:n.700+29C>G
NM_001166102.2:c.673+29C>G	NP_001159574.1:n.673+29C>G
NM_007103.4:c.700+29C>G MANE Select	NP_009034.2:n.700+29C>G