Canonical Allele Identifier: CA381537510

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378028C>A (hg19) ; chr11:g.67610557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610557C>A , CM000673.2:g.67610557C>A	GRCh38
NC_000011.9:g.67378028C>A , CM000673.1:g.67378028C>A	GRCh37
NC_000011.8:g.67134604C>A	NCBI36
NG_013353.1:g.8706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.687C>A MANE Select	ENSP00000322450.6:p.Phe229Leu
ENST00000647561.1:c.687C>A	ENSP00000497587.1:p.Phe229Leu
ENST00000322776.10:c.687C>A	ENSP00000322450.6:p.Phe229Leu
ENST00000415352.6:c.666C>A	ENSP00000395368.2:p.Phe222Leu
ENST00000526169.1:n.429C>A
ENST00000526770.5:n.546C>A
ENST00000529927.5:c.660C>A	ENSP00000436766.1:p.Phe220Leu
ENST00000532244.5:c.384C>A	ENSP00000435202.1:p.Phe128Leu
ENST00000532303.5:c.384C>A	ENSP00000432015.1:p.Phe128Leu
ENST00000533919.5:c.165C>A	ENSP00000435199.1:p.Phe55Leu
NM_001166102.1:c.660C>A	NP_001159574.1:p.Phe220Leu
NM_007103.3:c.687C>A	NP_009034.2:p.Phe229Leu
NM_001166102.2:c.660C>A	NP_001159574.1:p.Phe220Leu
NM_007103.4:c.687C>A MANE Select	NP_009034.2:p.Phe229Leu