Canonical Allele Identifier: CA6143253

Gene: NDUFV1

Linked Data

• dbSNP Id: rs766743662
• ExAC: 11:67378070 CTG / C
• gnomAD v2: 11-67378070-CTG-C
• gnomAD v4: 11-67610599-CTG-C
• MyVariant Identifiers: chr11:g.67378071_67378072del (hg19) ; chr11:g.67610600_67610601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610603_67610604del , CM000673.2:g.67610603_67610604del	GRCh38
NC_000011.9:g.67378074_67378075del , CM000673.1:g.67378074_67378075del	GRCh37
NC_000011.8:g.67134650_67134651del	NCBI36
NG_013353.1:g.8752_8753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.700+33_700+34del MANE Select	ENSP00000322450.6:n.700+33_700+34del
ENST00000647561.1:c.700+33_700+34del	ENSP00000497587.1:n.700+33_700+34del
ENST00000322776.10:c.700+33_700+34del	ENSP00000322450.6:n.700+33_700+34del
ENST00000415352.6:c.679+33_679+34del	ENSP00000395368.2:n.679+33_679+34del
ENST00000526169.1:n.442+33_442+34del
ENST00000526770.5:n.592_593del
ENST00000529927.5:c.673+33_673+34del	ENSP00000436766.1:n.673+33_673+34del
ENST00000532303.5:c.397+33_397+34del	ENSP00000432015.1:n.397+33_397+34del
ENST00000533919.5:c.178+33_178+34del	ENSP00000435199.1:n.178+33_178+34del
NM_001166102.1:c.673+33_673+34del	NP_001159574.1:n.673+33_673+34del
NM_007103.3:c.700+33_700+34del	NP_009034.2:n.700+33_700+34del
NM_001166102.2:c.673+33_673+34del	NP_001159574.1:n.673+33_673+34del
NM_007103.4:c.700+33_700+34del MANE Select	NP_009034.2:n.700+33_700+34del