Canonical Allele Identifier: CA381535254

Gene: NDUFV1

Linked Data

• dbSNP Id: rs1472888203
• gnomAD v2: 11-67376953-G-T
• gnomAD v3: 11-67609482-G-T
• gnomAD v4: 11-67609482-G-T
• MyVariant Identifiers: chr11:g.67376953G>T (hg19) ; chr11:g.67609482G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.357G>T MANE Select	ENSP00000322450.6:p.Glu119Asp
ENST00000647561.1:c.357G>T	ENSP00000497587.1:p.Glu119Asp
ENST00000322776.10:c.357G>T	ENSP00000322450.6:p.Glu119Asp
ENST00000415352.6:c.336G>T	ENSP00000395368.2:p.Glu112Asp
ENST00000524838.5:n.414G>T
ENST00000525086.5:n.430G>T
ENST00000526169.1:n.99G>T
ENST00000526770.5:n.216G>T
ENST00000528314.1:c.54G>T	ENSP00000434581.1:p.Glu18Asp
ENST00000528377.1:n.528G>T
ENST00000529867.5:c.321G>T	ENSP00000434438.1:p.Glu107Asp
ENST00000529927.5:c.330G>T	ENSP00000436766.1:p.Glu110Asp
ENST00000530014.5:n.652G>T
ENST00000530103.5:c.*251G>T	ENSP00000434575.1:n.*251G>T
ENST00000530638.1:c.240G>T	ENSP00000436936.1:p.Glu80Asp
ENST00000532244.5:c.54G>T	ENSP00000435202.1:p.Glu18Asp
ENST00000532303.5:c.54G>T	ENSP00000432015.1:p.Glu18Asp
ENST00000532343.5:c.54G>T	ENSP00000431751.1:p.Glu18Asp
ENST00000533075.5:c.336G>T	ENSP00000437267.1:p.Glu112Asp
ENST00000534139.5:n.473G>T
NM_001166102.1:c.330G>T	NP_001159574.1:p.Glu110Asp
NM_007103.3:c.357G>T	NP_009034.2:p.Glu119Asp
NM_001166102.2:c.330G>T	NP_001159574.1:p.Glu110Asp
NM_007103.4:c.357G>T MANE Select	NP_009034.2:p.Glu119Asp