Canonical Allele Identifier: CA381540952

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378982C>A (hg19) ; chr11:g.67611511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611511C>A , CM000673.2:g.67611511C>A	GRCh38
NC_000011.9:g.67378982C>A , CM000673.1:g.67378982C>A	GRCh37
NC_000011.8:g.67135558C>A	NCBI36
NG_013353.1:g.9660C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.1022C>A MANE Select	ENSP00000322450.6:p.Ala341Glu
ENST00000647561.1:c.1022C>A	ENSP00000497587.1:p.Ala341Glu
ENST00000322776.10:c.1022C>A	ENSP00000322450.6:p.Ala341Glu
ENST00000415352.6:c.1001C>A	ENSP00000395368.2:p.Ala334Glu
ENST00000526169.1:n.656-11C>A
ENST00000526770.5:n.1305C>A
ENST00000527355.5:c.311C>A	ENSP00000432637.1:p.Ala104Glu
ENST00000527923.1:n.364C>A
ENST00000529927.5:c.995C>A	ENSP00000436766.1:p.Ala332Glu
ENST00000532303.5:c.719C>A	ENSP00000432015.1:p.Ala240Glu
ENST00000533919.5:c.426C>A	ENSP00000435199.1:n.426C>A
NM_001166102.1:c.995C>A	NP_001159574.1:p.Ala332Glu
NM_007103.3:c.1022C>A	NP_009034.2:p.Ala341Glu
NM_001166102.2:c.995C>A	NP_001159574.1:p.Ala332Glu
NM_007103.4:c.1022C>A MANE Select	NP_009034.2:p.Ala341Glu