Canonical Allele Identifier: CA381535206

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67609475-C-T
• MyVariant Identifiers: chr11:g.67376946C>T (hg19) ; chr11:g.67609475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609475C>T , CM000673.2:g.67609475C>T	GRCh38
NC_000011.9:g.67376946C>T , CM000673.1:g.67376946C>T	GRCh37
NC_000011.8:g.67133522C>T	NCBI36
NG_013353.1:g.7624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.350C>T MANE Select	ENSP00000322450.6:p.Ala117Val
ENST00000647561.1:c.350C>T	ENSP00000497587.1:p.Ala117Val
ENST00000322776.10:c.350C>T	ENSP00000322450.6:p.Ala117Val
ENST00000415352.6:c.329C>T	ENSP00000395368.2:p.Ala110Val
ENST00000524838.5:n.407C>T
ENST00000525086.5:n.423C>T
ENST00000526169.1:n.92C>T
ENST00000526770.5:n.209C>T
ENST00000528314.1:c.47C>T	ENSP00000434581.1:p.Ala16Val
ENST00000528377.1:n.521C>T
ENST00000529867.5:c.314C>T	ENSP00000434438.1:p.Ala105Val
ENST00000529927.5:c.323C>T	ENSP00000436766.1:p.Ala108Val
ENST00000530014.5:n.645C>T
ENST00000530103.5:c.*244C>T	ENSP00000434575.1:n.*244C>T
ENST00000530638.1:c.233C>T	ENSP00000436936.1:p.Ala78Val
ENST00000532244.5:c.47C>T	ENSP00000435202.1:p.Ala16Val
ENST00000532303.5:c.47C>T	ENSP00000432015.1:p.Ala16Val
ENST00000532343.5:c.47C>T	ENSP00000431751.1:p.Ala16Val
ENST00000533075.5:c.329C>T	ENSP00000437267.1:p.Ala110Val
ENST00000534139.5:n.466C>T
NM_001166102.1:c.323C>T	NP_001159574.1:p.Ala108Val
NM_007103.3:c.350C>T	NP_009034.2:p.Ala117Val
NM_001166102.2:c.323C>T	NP_001159574.1:p.Ala108Val
NM_007103.4:c.350C>T MANE Select	NP_009034.2:p.Ala117Val