Canonical Allele Identifier: CA2070647

Gene: NDUFS1

Linked Data

• dbSNP Id: rs767143264
• ExAC: 2:207009655 T / C
• gnomAD v2: 2-207009655-T-C
• gnomAD v4: 2-206144931-T-C
• MyVariant Identifiers: chr2:g.207009655T>C (hg19) ; chr2:g.206144931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144931T>C , CM000664.2:g.206144931T>C	GRCh38
NC_000002.11:g.207009655T>C , CM000664.1:g.207009655T>C	GRCh37
NC_000002.10:g.206717900T>C	NCBI36
NG_009248.1:g.19533A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.833A>G MANE Select	ENSP00000233190.5:p.His278Arg
ENST00000233190.10:c.833A>G	ENSP00000233190.5:p.His278Arg
ENST00000423725.5:c.662A>G	ENSP00000397760.1:p.His221Arg
ENST00000432169.5:c.500A>G	ENSP00000409689.1:p.His167Arg
ENST00000440274.5:c.725A>G	ENSP00000409766.1:p.His242Arg
ENST00000449699.5:c.833A>G	ENSP00000399912.1:p.His278Arg
ENST00000455934.6:c.875A>G	ENSP00000392709.2:p.His292Arg
ENST00000457011.5:c.485A>G	ENSP00000400976.1:p.His162Arg
NM_001199981.1:c.725A>G	NP_001186910.1:p.His242Arg
NM_001199982.1:c.500A>G	NP_001186911.1:p.His167Arg
NM_001199983.1:c.662A>G	NP_001186912.1:p.His221Arg
NM_001199984.1:c.875A>G	NP_001186913.1:p.His292Arg
NM_005006.6:c.833A>G	NP_004997.4:p.His278Arg
XM_017004188.2:c.74A>G	XP_016859677.1:p.His25Arg
NM_001199981.2:c.725A>G	NP_001186910.1:p.His242Arg
NM_001199982.2:c.500A>G	NP_001186911.1:p.His167Arg
NM_001199983.2:c.662A>G	NP_001186912.1:p.His221Arg
NM_005006.7:c.833A>G MANE Select	NP_004997.4:p.His278Arg
NM_001199984.2:c.875A>G	NP_001186913.1:p.His292Arg