Canonical Allele Identifier: CA350057299

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1344208964
• gnomAD v2: 2-207009671-T-C
• gnomAD v4: 2-206144947-T-C
• MyVariant Identifiers: chr2:g.207009671T>C (hg19) ; chr2:g.206144947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144947T>C , CM000664.2:g.206144947T>C	GRCh38
NC_000002.11:g.207009671T>C , CM000664.1:g.207009671T>C	GRCh37
NC_000002.10:g.206717916T>C	NCBI36
NG_009248.1:g.19517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.817A>G MANE Select	ENSP00000233190.5:p.Ile273Val
ENST00000233190.10:c.817A>G	ENSP00000233190.5:p.Ile273Val
ENST00000423725.5:c.646A>G	ENSP00000397760.1:p.Ile216Val
ENST00000432169.5:c.484A>G	ENSP00000409689.1:p.Ile162Val
ENST00000440274.5:c.709A>G	ENSP00000409766.1:p.Ile237Val
ENST00000449699.5:c.817A>G	ENSP00000399912.1:p.Ile273Val
ENST00000455934.6:c.859A>G	ENSP00000392709.2:p.Ile287Val
ENST00000457011.5:c.469A>G	ENSP00000400976.1:p.Ile157Val
NM_001199981.1:c.709A>G	NP_001186910.1:p.Ile237Val
NM_001199982.1:c.484A>G	NP_001186911.1:p.Ile162Val
NM_001199983.1:c.646A>G	NP_001186912.1:p.Ile216Val
NM_001199984.1:c.859A>G	NP_001186913.1:p.Ile287Val
NM_005006.6:c.817A>G	NP_004997.4:p.Ile273Val
XM_017004188.2:c.58A>G	XP_016859677.1:p.Ile20Val
NM_001199981.2:c.709A>G	NP_001186910.1:p.Ile237Val
NM_001199982.2:c.484A>G	NP_001186911.1:p.Ile162Val
NM_001199983.2:c.646A>G	NP_001186912.1:p.Ile216Val
NM_005006.7:c.817A>G MANE Select	NP_004997.4:p.Ile273Val
NM_001199984.2:c.859A>G	NP_001186913.1:p.Ile287Val