Canonical Allele Identifier: CA224181131

Gene: NDUFV1

Linked Data

• dbSNP Id: rs747407725
• gnomAD v3: 11-67611470-C-T
• gnomAD v4: 11-67611470-C-T
• MyVariant Identifiers: chr11:g.67378941C>T (hg19) ; chr11:g.67611470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611470C>T , CM000673.2:g.67611470C>T	GRCh38
NC_000011.9:g.67378941C>T , CM000673.1:g.67378941C>T	GRCh37
NC_000011.8:g.67135517C>T	NCBI36
NG_013353.1:g.9619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.981C>T MANE Select	ENSP00000322450.6:p.Ile327=
ENST00000647561.1:c.981C>T	ENSP00000497587.1:p.Ile327=
ENST00000322776.10:c.981C>T	ENSP00000322450.6:p.Ile327=
ENST00000415352.6:c.960C>T	ENSP00000395368.2:p.Ile320=
ENST00000526169.1:n.656-52C>T
ENST00000526770.5:n.1264C>T
ENST00000527355.5:c.270C>T	ENSP00000432637.1:p.Ile90=
ENST00000527923.1:n.323C>T
ENST00000529927.5:c.954C>T	ENSP00000436766.1:p.Ile318=
ENST00000532303.5:c.678C>T	ENSP00000432015.1:p.Ile226=
ENST00000533919.5:c.392-7C>T	ENSP00000435199.1:n.392-7C>T
NM_001166102.1:c.954C>T	NP_001159574.1:p.Ile318=
NM_007103.3:c.981C>T	NP_009034.2:p.Ile327=
NM_001166102.2:c.954C>T	NP_001159574.1:p.Ile318=
NM_007103.4:c.981C>T MANE Select	NP_009034.2:p.Ile327=