Canonical Allele Identifier: CA474220630

Gene: NDUFS3

Linked Data

• gnomAD v4: 11-47582468-G-A
• COSMIC: COSM4033224
• MyVariant Identifiers: chr11:g.47604020G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582468G>A , CM000673.2:g.47582468G>A	GRCh38
NC_000011.9:g.47604020G>A , CM000673.1:g.47604020G>A	GRCh37
NC_000011.8:g.47560596G>A	NCBI36
NG_011946.1:g.8459G>A
NG_011946.2:g.8459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.627G>A MANE Select	ENSP00000263774.4:p.Glu209=
ENST00000531351.2:n.1822G>A
ENST00000677462.1:n.3101G>A
ENST00000678975.1:n.2884G>A
ENST00000263774.8:c.627G>A	ENSP00000263774.4:p.Glu209=
ENST00000524568.1:n.730G>A
ENST00000525212.1:n.282G>A
ENST00000525378.5:n.565G>A
ENST00000527178.1:n.227G>A
ENST00000533507.5:n.1521G>A
NM_004551.2:c.627G>A	NP_004542.1:p.Glu209=
NM_004551.3:c.627G>A MANE Select	NP_004542.1:p.Glu209=