Canonical Allele Identifier: CA63648701

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 1443646
• ClinVar RCV Id: RCV001981304
• dbSNP Id: rs954779442
• gnomAD v2: 2-206992633-T-C
• gnomAD v4: 2-206127909-T-C
• MyVariant Identifiers: chr2:g.206992633T>C (hg19) ; chr2:g.206127909T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127909T>C , CM000664.2:g.206127909T>C	GRCh38
NC_000002.11:g.206992633T>C , CM000664.1:g.206992633T>C	GRCh37
NC_000002.10:g.206700878T>C	NCBI36
NG_009248.1:g.36555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1772A>G MANE Select	ENSP00000233190.5:p.Glu591Gly
ENST00000233190.10:c.1772A>G	ENSP00000233190.5:p.Glu591Gly
ENST00000423725.5:c.1601A>G	ENSP00000397760.1:p.Glu534Gly
ENST00000432169.5:c.1439A>G	ENSP00000409689.1:p.Glu480Gly
ENST00000440274.5:c.1664A>G	ENSP00000409766.1:p.Glu555Gly
ENST00000449699.5:c.1772A>G	ENSP00000399912.1:p.Glu591Gly
ENST00000455934.6:c.1814A>G	ENSP00000392709.2:p.Glu605Gly
ENST00000457011.5:c.1424A>G	ENSP00000400976.1:p.Glu475Gly
ENST00000498520.1:n.244A>G
NM_001199981.1:c.1664A>G	NP_001186910.1:p.Glu555Gly
NM_001199982.1:c.1439A>G	NP_001186911.1:p.Glu480Gly
NM_001199983.1:c.1601A>G	NP_001186912.1:p.Glu534Gly
NM_001199984.1:c.1814A>G	NP_001186913.1:p.Glu605Gly
NM_005006.6:c.1772A>G	NP_004997.4:p.Glu591Gly
XM_017004188.2:c.1013A>G	XP_016859677.1:p.Glu338Gly
NM_001199981.2:c.1664A>G	NP_001186910.1:p.Glu555Gly
NM_001199982.2:c.1439A>G	NP_001186911.1:p.Glu480Gly
NM_001199983.2:c.1601A>G	NP_001186912.1:p.Glu534Gly
NM_005006.7:c.1772A>G MANE Select	NP_004997.4:p.Glu591Gly
NM_001199984.2:c.1814A>G	NP_001186913.1:p.Glu605Gly