Canonical Allele Identifier: CA5978068

Gene: NDUFS3

Linked Data

• ClinVar Variation Id: 304997
• ClinVar RCV Id: RCV000325919 ; RCV000382544 ; RCV002056209
• dbSNP Id: rs377323760
• ExAC: 11:47605895 G / A
• gnomAD v2: 11-47605895-G-A
• gnomAD v3: 11-47584343-G-A
• gnomAD v4: 11-47584343-G-A
• MyVariant Identifiers: chr11:g.47605895G>A (hg19) ; chr11:g.47584343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47584343G>A , CM000673.2:g.47584343G>A	GRCh38
NC_000011.9:g.47605895G>A , CM000673.1:g.47605895G>A	GRCh37
NC_000011.8:g.47562471G>A	NCBI36
NG_011946.1:g.10334G>A
NG_011946.2:g.10334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.657G>A MANE Select	ENSP00000263774.4:p.Val219=
ENST00000531351.2:n.1852G>A
ENST00000677462.1:n.3131G>A
ENST00000678975.1:n.2914G>A
ENST00000263774.8:c.657G>A	ENSP00000263774.4:p.Val219=
ENST00000525212.1:n.312G>A
ENST00000525378.5:n.595G>A
ENST00000527178.1:n.257G>A
ENST00000533507.5:n.1551G>A
NM_004551.2:c.657G>A	NP_004542.1:p.Val219=
NM_004551.3:c.657G>A MANE Select	NP_004542.1:p.Val219=