Canonical Allele Identifier: CA381537159

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67377987A>T (hg19) ; chr11:g.67610516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610516A>T , CM000673.2:g.67610516A>T	GRCh38
NC_000011.9:g.67377987A>T , CM000673.1:g.67377987A>T	GRCh37
NC_000011.8:g.67134563A>T	NCBI36
NG_013353.1:g.8665A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.646A>T MANE Select	ENSP00000322450.6:p.Ile216Phe
ENST00000647561.1:c.646A>T	ENSP00000497587.1:p.Ile216Phe
ENST00000322776.10:c.646A>T	ENSP00000322450.6:p.Ile216Phe
ENST00000415352.6:c.625A>T	ENSP00000395368.2:p.Ile209Phe
ENST00000526169.1:n.388A>T
ENST00000526770.5:n.505A>T
ENST00000529927.5:c.619A>T	ENSP00000436766.1:p.Ile207Phe
ENST00000532244.5:c.343A>T	ENSP00000435202.1:p.Ile115Phe
ENST00000532303.5:c.343A>T	ENSP00000432015.1:p.Ile115Phe
ENST00000533919.5:c.124A>T	ENSP00000435199.1:p.Ile42Phe
NM_001166102.1:c.619A>T	NP_001159574.1:p.Ile207Phe
NM_007103.3:c.646A>T	NP_009034.2:p.Ile216Phe
NM_001166102.2:c.619A>T	NP_001159574.1:p.Ile207Phe
NM_007103.4:c.646A>T MANE Select	NP_009034.2:p.Ile216Phe