Canonical Allele Identifier: CA381537173

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67377989T>G (hg19) ; chr11:g.67610518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610518T>G , CM000673.2:g.67610518T>G	GRCh38
NC_000011.9:g.67377989T>G , CM000673.1:g.67377989T>G	GRCh37
NC_000011.8:g.67134565T>G	NCBI36
NG_013353.1:g.8667T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.648T>G MANE Select	ENSP00000322450.6:p.Ile216Met
ENST00000647561.1:c.648T>G	ENSP00000497587.1:p.Ile216Met
ENST00000322776.10:c.648T>G	ENSP00000322450.6:p.Ile216Met
ENST00000415352.6:c.627T>G	ENSP00000395368.2:p.Ile209Met
ENST00000526169.1:n.390T>G
ENST00000526770.5:n.507T>G
ENST00000529927.5:c.621T>G	ENSP00000436766.1:p.Ile207Met
ENST00000532244.5:c.345T>G	ENSP00000435202.1:p.Ile115Met
ENST00000532303.5:c.345T>G	ENSP00000432015.1:p.Ile115Met
ENST00000533919.5:c.126T>G	ENSP00000435199.1:p.Ile42Met
NM_001166102.1:c.621T>G	NP_001159574.1:p.Ile207Met
NM_007103.3:c.648T>G	NP_009034.2:p.Ile216Met
NM_001166102.2:c.621T>G	NP_001159574.1:p.Ile207Met
NM_007103.4:c.648T>G MANE Select	NP_009034.2:p.Ile216Met