Canonical Allele Identifier: CA1980190344

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1406988492
• gnomAD v4: 11-67610616-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610616C>T , CM000673.2:g.67610616C>T	GRCh38
NC_000011.9:g.67378087C>T , CM000673.1:g.67378087C>T	GRCh37
NC_000011.8:g.67134663C>T	NCBI36
NG_013353.1:g.8765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.700+46C>T MANE Select	ENSP00000322450.6:n.700+46C>T
ENST00000647561.1:c.700+46C>T	ENSP00000497587.1:n.700+46C>T
ENST00000322776.10:c.700+46C>T	ENSP00000322450.6:n.700+46C>T
ENST00000415352.6:c.679+46C>T	ENSP00000395368.2:n.679+46C>T
ENST00000526169.1:n.442+46C>T
ENST00000526770.5:n.605C>T
ENST00000529927.5:c.673+46C>T	ENSP00000436766.1:n.673+46C>T
ENST00000532303.5:c.397+46C>T	ENSP00000432015.1:n.397+46C>T
ENST00000533919.5:c.178+46C>T	ENSP00000435199.1:n.178+46C>T
NM_001166102.1:c.673+46C>T	NP_001159574.1:n.673+46C>T
NM_007103.3:c.700+46C>T	NP_009034.2:n.700+46C>T
NM_001166102.2:c.673+46C>T	NP_001159574.1:n.673+46C>T
NM_007103.4:c.700+46C>T MANE Select	NP_009034.2:n.700+46C>T