Canonical Allele Identifier: CA381540975

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378994C>A (hg19) ; chr11:g.67611523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611523C>A , CM000673.2:g.67611523C>A	GRCh38
NC_000011.9:g.67378994C>A , CM000673.1:g.67378994C>A	GRCh37
NC_000011.8:g.67135570C>A	NCBI36
NG_013353.1:g.9672C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1034C>A MANE Select	ENSP00000322450.6:p.Ala345Glu
ENST00000647561.1:c.1034C>A	ENSP00000497587.1:p.Ala345Glu
ENST00000322776.10:c.1034C>A	ENSP00000322450.6:p.Ala345Glu
ENST00000415352.6:c.1013C>A	ENSP00000395368.2:p.Ala338Glu
ENST00000526169.1:n.657C>A
ENST00000526770.5:n.1317C>A
ENST00000527355.5:c.323C>A	ENSP00000432637.1:p.Ala108Glu
ENST00000527923.1:n.376C>A
ENST00000529927.5:c.1007C>A	ENSP00000436766.1:p.Ala336Glu
ENST00000532303.5:c.731C>A	ENSP00000432015.1:p.Ala244Glu
ENST00000533919.5:c.438C>A	ENSP00000435199.1:n.438C>A
NM_001166102.1:c.1007C>A	NP_001159574.1:p.Ala336Glu
NM_007103.3:c.1034C>A	NP_009034.2:p.Ala345Glu
NM_001166102.2:c.1007C>A	NP_001159574.1:p.Ala336Glu
NM_007103.4:c.1034C>A MANE Select	NP_009034.2:p.Ala345Glu