Canonical Allele Identifier: CA381536580

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67377886T>A (hg19) ; chr11:g.67610415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610415T>A , CM000673.2:g.67610415T>A	GRCh38
NC_000011.9:g.67377886T>A , CM000673.1:g.67377886T>A	GRCh37
NC_000011.8:g.67134462T>A	NCBI36
NG_013353.1:g.8564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.545T>A MANE Select	ENSP00000322450.6:p.Ile182Asn
ENST00000647561.1:c.545T>A	ENSP00000497587.1:p.Ile182Asn
ENST00000322776.10:c.545T>A	ENSP00000322450.6:p.Ile182Asn
ENST00000415352.6:c.524T>A	ENSP00000395368.2:p.Ile175Asn
ENST00000526169.1:n.287T>A
ENST00000526770.5:n.404T>A
ENST00000529867.5:c.509T>A	ENSP00000434438.1:p.Ile170Asn
ENST00000529927.5:c.518T>A	ENSP00000436766.1:p.Ile173Asn
ENST00000530638.1:c.428T>A	ENSP00000436936.1:p.Ile143Asn
ENST00000532244.5:c.242T>A	ENSP00000435202.1:p.Ile81Asn
ENST00000532303.5:c.242T>A	ENSP00000432015.1:p.Ile81Asn
ENST00000532343.5:c.242T>A	ENSP00000431751.1:p.Ile81Asn
ENST00000533075.5:c.524T>A	ENSP00000437267.1:p.Ile175Asn
ENST00000533919.5:c.23T>A	ENSP00000435199.1:p.Ile8Asn
NM_001166102.1:c.518T>A	NP_001159574.1:p.Ile173Asn
NM_007103.3:c.545T>A	NP_009034.2:p.Ile182Asn
NM_001166102.2:c.518T>A	NP_001159574.1:p.Ile173Asn
NM_007103.4:c.545T>A MANE Select	NP_009034.2:p.Ile182Asn