Canonical Allele Identifier: CA381536611

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67377891A>C (hg19) ; chr11:g.67610420A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610420A>C , CM000673.2:g.67610420A>C	GRCh38
NC_000011.9:g.67377891A>C , CM000673.1:g.67377891A>C	GRCh37
NC_000011.8:g.67134467A>C	NCBI36
NG_013353.1:g.8569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.550A>C MANE Select	ENSP00000322450.6:p.Lys184Gln
ENST00000647561.1:c.550A>C	ENSP00000497587.1:p.Lys184Gln
ENST00000322776.10:c.550A>C	ENSP00000322450.6:p.Lys184Gln
ENST00000415352.6:c.529A>C	ENSP00000395368.2:p.Lys177Gln
ENST00000526169.1:n.292A>C
ENST00000526770.5:n.409A>C
ENST00000529867.5:c.514A>C	ENSP00000434438.1:p.Lys172Gln
ENST00000529927.5:c.523A>C	ENSP00000436766.1:p.Lys175Gln
ENST00000530638.1:c.433A>C
ENST00000532244.5:c.247A>C	ENSP00000435202.1:p.Lys83Gln
ENST00000532303.5:c.247A>C	ENSP00000432015.1:p.Lys83Gln
ENST00000532343.5:c.247A>C	ENSP00000431751.1:p.Lys83Gln
ENST00000533075.5:c.529A>C	ENSP00000437267.1:p.Lys177Gln
ENST00000533919.5:c.28A>C	ENSP00000435199.1:p.Lys10Gln
NM_001166102.1:c.523A>C	NP_001159574.1:p.Lys175Gln
NM_007103.3:c.550A>C	NP_009034.2:p.Lys184Gln
NM_001166102.2:c.523A>C	NP_001159574.1:p.Lys175Gln
NM_007103.4:c.550A>C MANE Select	NP_009034.2:p.Lys184Gln