Canonical Allele Identifier: CA475412845

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1854893724
• MyVariant Identifiers: chr11:g.67378016G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610545G>A , CM000673.2:g.67610545G>A	GRCh38
NC_000011.9:g.67378016G>A , CM000673.1:g.67378016G>A	GRCh37
NC_000011.8:g.67134592G>A	NCBI36
NG_013353.1:g.8694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.675G>A MANE Select	ENSP00000322450.6:p.Leu225=
ENST00000647561.1:c.675G>A	ENSP00000497587.1:p.Leu225=
ENST00000322776.10:c.675G>A	ENSP00000322450.6:p.Leu225=
ENST00000415352.6:c.654G>A	ENSP00000395368.2:p.Leu218=
ENST00000526169.1:n.417G>A
ENST00000526770.5:n.534G>A
ENST00000529927.5:c.648G>A	ENSP00000436766.1:p.Leu216=
ENST00000532244.5:c.372G>A	ENSP00000435202.1:p.Leu124=
ENST00000532303.5:c.372G>A	ENSP00000432015.1:p.Leu124=
ENST00000533919.5:c.153G>A	ENSP00000435199.1:p.Leu51=
NM_001166102.1:c.648G>A	NP_001159574.1:p.Leu216=
NM_007103.3:c.675G>A	NP_009034.2:p.Leu225=
NM_001166102.2:c.648G>A	NP_001159574.1:p.Leu216=
NM_007103.4:c.675G>A MANE Select	NP_009034.2:p.Leu225=