Canonical Allele Identifier: CA320767

Gene: NDUFS3

Linked Data

• ClinVar Variation Id: 214802
• ClinVar RCV Id: RCV000274500 ; RCV000331648 ; RCV000884571 ; RCV004530169
• dbSNP Id: rs148331180
• ExAC: 11:47603733 G / C
• gnomAD v2: 11-47603733-G-C
• gnomAD v3: 11-47582181-G-C
• gnomAD v4: 11-47582181-G-C
• MyVariant Identifiers: chr11:g.47603733G>C (hg19) ; chr11:g.47582181G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582181G>C , CM000673.2:g.47582181G>C	GRCh38
NC_000011.9:g.47603733G>C , CM000673.1:g.47603733G>C	GRCh37
NC_000011.8:g.47560309G>C	NCBI36
NG_011946.1:g.8172G>C
NG_011946.2:g.8172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.475G>C MANE Select	ENSP00000263774.4:p.Val159Leu
ENST00000531351.2:n.1535G>C
ENST00000677462.1:n.2949G>C
ENST00000678975.1:n.2732G>C
ENST00000263774.8:c.475G>C	ENSP00000263774.4:p.Val159Leu
ENST00000524568.1:n.578G>C
ENST00000525212.1:n.130G>C
ENST00000525378.5:n.413G>C
ENST00000533507.5:n.1369G>C
NM_004551.2:c.475G>C	NP_004542.1:p.Val159Leu
NM_004551.3:c.475G>C MANE Select	NP_004542.1:p.Val159Leu