Canonical Allele Identifier: CA381536582

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 1215835
• ClinVar RCV Id: RCV001586773
• dbSNP Id: rs2134084468
• MyVariant Identifiers: chr11:g.67377886T>C (hg19) ; chr11:g.67610415T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.545T>C MANE Select	ENSP00000322450.6:p.Ile182Thr
ENST00000647561.1:c.545T>C	ENSP00000497587.1:p.Ile182Thr
ENST00000322776.10:c.545T>C	ENSP00000322450.6:p.Ile182Thr
ENST00000415352.6:c.524T>C	ENSP00000395368.2:p.Ile175Thr
ENST00000526169.1:n.287T>C
ENST00000526770.5:n.404T>C
ENST00000529867.5:c.509T>C	ENSP00000434438.1:p.Ile170Thr
ENST00000529927.5:c.518T>C	ENSP00000436766.1:p.Ile173Thr
ENST00000530638.1:c.428T>C	ENSP00000436936.1:p.Ile143Thr
ENST00000532244.5:c.242T>C	ENSP00000435202.1:p.Ile81Thr
ENST00000532303.5:c.242T>C	ENSP00000432015.1:p.Ile81Thr
ENST00000532343.5:c.242T>C	ENSP00000431751.1:p.Ile81Thr
ENST00000533075.5:c.524T>C	ENSP00000437267.1:p.Ile175Thr
ENST00000533919.5:c.23T>C	ENSP00000435199.1:p.Ile8Thr
NM_001166102.1:c.518T>C	NP_001159574.1:p.Ile173Thr
NM_007103.3:c.545T>C	NP_009034.2:p.Ile182Thr
NM_001166102.2:c.518T>C	NP_001159574.1:p.Ile173Thr
NM_007103.4:c.545T>C MANE Select	NP_009034.2:p.Ile182Thr