Canonical Allele Identifier: CA274773

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 190449
• ClinVar RCV Id: RCV000170569
• dbSNP Id: rs786205666
• MyVariant Identifiers: chr2:g.207009730A>C (hg19) ; chr2:g.206145006A>C (hg38)
• PubMed: PMID:22499341 ; PMID:26036949

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145006A>C , CM000664.2:g.206145006A>C	GRCh38
NC_000002.11:g.207009730A>C , CM000664.1:g.207009730A>C	GRCh37
NC_000002.10:g.206717975A>C	NCBI36
NG_009248.1:g.19458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.758T>G MANE Select	ENSP00000233190.5:p.Val253Gly
ENST00000233190.10:c.758T>G	ENSP00000233190.5:p.Val253Gly
ENST00000423725.5:c.587T>G	ENSP00000397760.1:p.Val196Gly
ENST00000432169.5:c.425T>G	ENSP00000409689.1:p.Val142Gly
ENST00000440274.5:c.650T>G	ENSP00000409766.1:p.Val217Gly
ENST00000449699.5:c.758T>G	ENSP00000399912.1:p.Val253Gly
ENST00000455934.6:c.800T>G	ENSP00000392709.2:p.Val267Gly
ENST00000457011.5:c.410T>G	ENSP00000400976.1:p.Val137Gly
NM_001199981.1:c.650T>G	NP_001186910.1:p.Val217Gly
NM_001199982.1:c.425T>G	NP_001186911.1:p.Val142Gly
NM_001199983.1:c.587T>G	NP_001186912.1:p.Val196Gly
NM_001199984.1:c.800T>G	NP_001186913.1:p.Val267Gly
NM_005006.6:c.758T>G	NP_004997.4:p.Val253Gly
XM_017004188.2:c.-2T>G	XP_016859677.1:n.-2T>G
NM_001199981.2:c.650T>G	NP_001186910.1:p.Val217Gly
NM_001199982.2:c.425T>G	NP_001186911.1:p.Val142Gly
NM_001199983.2:c.587T>G	NP_001186912.1:p.Val196Gly
NM_005006.7:c.758T>G MANE Select	NP_004997.4:p.Val253Gly
NM_001199984.2:c.800T>G	NP_001186913.1:p.Val267Gly