Canonical Allele Identifier: CA224180321

Gene: NDUFV1

Linked Data

• dbSNP Id: rs939897417
• MyVariant Identifiers: chr11:g.67378021C>T (hg19) ; chr11:g.67610550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610550C>T , CM000673.2:g.67610550C>T	GRCh38
NC_000011.9:g.67378021C>T , CM000673.1:g.67378021C>T	GRCh37
NC_000011.8:g.67134597C>T	NCBI36
NG_013353.1:g.8699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.680C>T MANE Select	ENSP00000322450.6:p.Pro227Leu
ENST00000647561.1:c.680C>T	ENSP00000497587.1:p.Pro227Leu
ENST00000322776.10:c.680C>T	ENSP00000322450.6:p.Pro227Leu
ENST00000415352.6:c.659C>T	ENSP00000395368.2:p.Pro220Leu
ENST00000526169.1:n.422C>T
ENST00000526770.5:n.539C>T
ENST00000529927.5:c.653C>T	ENSP00000436766.1:p.Pro218Leu
ENST00000532244.5:c.377C>T	ENSP00000435202.1:p.Pro126Leu
ENST00000532303.5:c.377C>T	ENSP00000432015.1:p.Pro126Leu
ENST00000533919.5:c.158C>T	ENSP00000435199.1:p.Pro53Leu
NM_001166102.1:c.653C>T	NP_001159574.1:p.Pro218Leu
NM_007103.3:c.680C>T	NP_009034.2:p.Pro227Leu
NM_001166102.2:c.653C>T	NP_001159574.1:p.Pro218Leu
NM_007103.4:c.680C>T MANE Select	NP_009034.2:p.Pro227Leu