Canonical Allele Identifier: CA224180266

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2779299
• ClinVar RCV Id: RCV003663525
• dbSNP Id: rs982566308
• MyVariant Identifiers: chr11:g.67377989T>C (hg19) ; chr11:g.67610518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610518T>C , CM000673.2:g.67610518T>C	GRCh38
NC_000011.9:g.67377989T>C , CM000673.1:g.67377989T>C	GRCh37
NC_000011.8:g.67134565T>C	NCBI36
NG_013353.1:g.8667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.648T>C MANE Select	ENSP00000322450.6:p.Ile216=
ENST00000647561.1:c.648T>C	ENSP00000497587.1:p.Ile216=
ENST00000322776.10:c.648T>C	ENSP00000322450.6:p.Ile216=
ENST00000415352.6:c.627T>C	ENSP00000395368.2:p.Ile209=
ENST00000526169.1:n.390T>C
ENST00000526770.5:n.507T>C
ENST00000529927.5:c.621T>C	ENSP00000436766.1:p.Ile207=
ENST00000532244.5:c.345T>C	ENSP00000435202.1:p.Ile115=
ENST00000532303.5:c.345T>C	ENSP00000432015.1:p.Ile115=
ENST00000533919.5:c.126T>C	ENSP00000435199.1:p.Ile42=
NM_001166102.1:c.621T>C	NP_001159574.1:p.Ile207=
NM_007103.3:c.648T>C	NP_009034.2:p.Ile216=
NM_001166102.2:c.621T>C	NP_001159574.1:p.Ile207=
NM_007103.4:c.648T>C MANE Select	NP_009034.2:p.Ile216=