Canonical Allele Identifier: CA5978099

Gene: NDUFS3

Linked Data

• ClinVar Variation Id: 304999
• ClinVar RCV Id: RCV000284678 ; RCV000406732 ; RCV000939941 ; RCV004544516
• dbSNP Id: rs117981655
• ExAC: 11:47606021 T / C
• gnomAD v2: 11-47606021-T-C
• gnomAD v3: 11-47584469-T-C
• gnomAD v4: 11-47584469-T-C
• MyVariant Identifiers: chr11:g.47606021T>C (hg19) ; chr11:g.47584469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47584469T>C , CM000673.2:g.47584469T>C	GRCh38
NC_000011.9:g.47606021T>C , CM000673.1:g.47606021T>C	GRCh37
NC_000011.8:g.47562597T>C	NCBI36
NG_011946.1:g.10460T>C
NG_011946.2:g.10460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.783T>C MANE Select	ENSP00000263774.4:p.Pro261=
ENST00000531351.2:n.1978T>C
ENST00000677462.1:n.3257T>C
ENST00000678975.1:n.3040T>C
ENST00000263774.8:c.783T>C	ENSP00000263774.4:p.Pro261=
ENST00000525212.1:n.438T>C
ENST00000525378.5:n.721T>C
ENST00000533507.5:n.1677T>C
NM_004551.2:c.783T>C	NP_004542.1:p.Pro261=
NM_004551.3:c.783T>C MANE Select	NP_004542.1:p.Pro261=