Canonical Allele Identifier: CA475410530

Gene: NDUFV1

Linked Data

• ClinVar Variation Id: 2971532
• ClinVar RCV Id: RCV003822178
• dbSNP Id: rs1472888203
• gnomAD v4: 11-67609482-G-A
• MyVariant Identifiers: chr11:g.67376953G>A (hg19) ; chr11:g.67609482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609482G>A , CM000673.2:g.67609482G>A	GRCh38
NC_000011.9:g.67376953G>A , CM000673.1:g.67376953G>A	GRCh37
NC_000011.8:g.67133529G>A	NCBI36
NG_013353.1:g.7631G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.357G>A MANE Select	ENSP00000322450.6:p.Glu119=
ENST00000647561.1:c.357G>A	ENSP00000497587.1:p.Glu119=
ENST00000322776.10:c.357G>A	ENSP00000322450.6:p.Glu119=
ENST00000415352.6:c.336G>A	ENSP00000395368.2:p.Glu112=
ENST00000524838.5:n.414G>A
ENST00000525086.5:n.430G>A
ENST00000526169.1:n.99G>A
ENST00000526770.5:n.216G>A
ENST00000528314.1:c.54G>A	ENSP00000434581.1:p.Glu18=
ENST00000528377.1:n.528G>A
ENST00000529867.5:c.321G>A	ENSP00000434438.1:p.Glu107=
ENST00000529927.5:c.330G>A	ENSP00000436766.1:p.Glu110=
ENST00000530014.5:n.652G>A
ENST00000530103.5:c.*251G>A	ENSP00000434575.1:n.*251G>A
ENST00000530638.1:c.240G>A	ENSP00000436936.1:p.Glu80=
ENST00000532244.5:c.54G>A	ENSP00000435202.1:p.Glu18=
ENST00000532303.5:c.54G>A	ENSP00000432015.1:p.Glu18=
ENST00000532343.5:c.54G>A	ENSP00000431751.1:p.Glu18=
ENST00000533075.5:c.336G>A	ENSP00000437267.1:p.Glu112=
ENST00000534139.5:n.473G>A
NM_001166102.1:c.330G>A	NP_001159574.1:p.Glu110=
NM_007103.3:c.357G>A	NP_009034.2:p.Glu119=
NM_001166102.2:c.330G>A	NP_001159574.1:p.Glu110=
NM_007103.4:c.357G>A MANE Select	NP_009034.2:p.Glu119=