Canonical Allele Identifier: CA2070657

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 894880
• ClinVar RCV Id: RCV001136655 ; RCV001136656 ; RCV002556902
• dbSNP Id: rs148726142
• ExAC: 2:207009720 C / T
• gnomAD v2: 2-207009720-C-T
• gnomAD v3: 2-206144996-C-T
• gnomAD v4: 2-206144996-C-T
• COSMIC: COSM4090502
• MyVariant Identifiers: chr2:g.207009720C>T (hg19) ; chr2:g.206144996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144996C>T , CM000664.2:g.206144996C>T	GRCh38
NC_000002.11:g.207009720C>T , CM000664.1:g.207009720C>T	GRCh37
NC_000002.10:g.206717965C>T	NCBI36
NG_009248.1:g.19468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.768G>A MANE Select	ENSP00000233190.5:p.Ala256=
ENST00000233190.10:c.768G>A	ENSP00000233190.5:p.Ala256=
ENST00000423725.5:c.597G>A	ENSP00000397760.1:p.Ala199=
ENST00000432169.5:c.435G>A	ENSP00000409689.1:p.Ala145=
ENST00000440274.5:c.660G>A	ENSP00000409766.1:p.Ala220=
ENST00000449699.5:c.768G>A	ENSP00000399912.1:p.Ala256=
ENST00000455934.6:c.810G>A	ENSP00000392709.2:p.Ala270=
ENST00000457011.5:c.420G>A	ENSP00000400976.1:p.Ala140=
NM_001199981.1:c.660G>A	NP_001186910.1:p.Ala220=
NM_001199982.1:c.435G>A	NP_001186911.1:p.Ala145=
NM_001199983.1:c.597G>A	NP_001186912.1:p.Ala199=
NM_001199984.1:c.810G>A	NP_001186913.1:p.Ala270=
NM_005006.6:c.768G>A	NP_004997.4:p.Ala256=
XM_017004188.2:c.9G>A	XP_016859677.1:p.Ala3=
NM_001199981.2:c.660G>A	NP_001186910.1:p.Ala220=
NM_001199982.2:c.435G>A	NP_001186911.1:p.Ala145=
NM_001199983.2:c.597G>A	NP_001186912.1:p.Ala199=
NM_005006.7:c.768G>A MANE Select	NP_004997.4:p.Ala256=
NM_001199984.2:c.810G>A	NP_001186913.1:p.Ala270=