Canonical Allele Identifier: CA5978089

Gene: NDUFS3

Linked Data

• ClinVar Variation Id: 514270
• ClinVar RCV Id: RCV000614898 ; RCV001103854 ; RCV001103853 ; RCV002531615
• dbSNP Id: rs3740654
• ExAC: 11:47605985 G / A
• gnomAD v2: 11-47605985-G-A
• gnomAD v3: 11-47584433-G-A
• gnomAD v4: 11-47584433-G-A
• MyVariant Identifiers: chr11:g.47605985G>A (hg19) ; chr11:g.47584433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47584433G>A , CM000673.2:g.47584433G>A	GRCh38
NC_000011.9:g.47605985G>A , CM000673.1:g.47605985G>A	GRCh37
NC_000011.8:g.47562561G>A	NCBI36
NG_011946.1:g.10424G>A
NG_011946.2:g.10424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.747G>A MANE Select	ENSP00000263774.4:p.Pro249=
ENST00000531351.2:n.1942G>A
ENST00000677462.1:n.3221G>A
ENST00000678975.1:n.3004G>A
ENST00000263774.8:c.747G>A	ENSP00000263774.4:p.Pro249=
ENST00000525212.1:n.402G>A
ENST00000525378.5:n.685G>A
ENST00000533507.5:n.1641G>A
NM_004551.2:c.747G>A	NP_004542.1:p.Pro249=
NM_004551.3:c.747G>A MANE Select	NP_004542.1:p.Pro249=