Canonical Allele Identifier: CA221735676

Gene: NDUFS3

Linked Data

• dbSNP Id: rs916743044
• gnomAD v2: 11-47604137-C-T
• gnomAD v3: 11-47582585-C-T
• gnomAD v4: 11-47582585-C-T
• MyVariant Identifiers: chr11:g.47604137C>T (hg19) ; chr11:g.47582585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582585C>T , CM000673.2:g.47582585C>T	GRCh38
NC_000011.9:g.47604137C>T , CM000673.1:g.47604137C>T	GRCh37
NC_000011.8:g.47560713C>T	NCBI36
NG_011946.1:g.8576C>T
NG_011946.2:g.8576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.627+117C>T MANE Select	ENSP00000263774.4:n.627+117C>T
ENST00000531351.2:n.1822+117C>T
ENST00000677462.1:n.3101+117C>T
ENST00000678975.1:n.2884+117C>T
ENST00000263774.8:c.627+117C>T	ENSP00000263774.4:n.627+117C>T
ENST00000525212.1:n.282+117C>T
ENST00000525378.5:n.565+117C>T
ENST00000527178.1:n.227+117C>T
ENST00000533507.5:n.1521+117C>T
NM_004551.2:c.627+117C>T	NP_004542.1:n.627+117C>T
NM_004551.3:c.627+117C>T MANE Select	NP_004542.1:n.627+117C>T