Canonical Allele Identifier: CA2070649

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 1944055
• ClinVar RCV Id: RCV002663089 ; RCV002671012
• dbSNP Id: rs138779481
• ExAC: 2:207009661 C / T
• gnomAD v2: 2-207009661-C-T
• gnomAD v3: 2-206144937-C-T
• gnomAD v4: 2-206144937-C-T
• MyVariant Identifiers: chr2:g.207009661C>T (hg19) ; chr2:g.206144937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144937C>T , CM000664.2:g.206144937C>T	GRCh38
NC_000002.11:g.207009661C>T , CM000664.1:g.207009661C>T	GRCh37
NC_000002.10:g.206717906C>T	NCBI36
NG_009248.1:g.19527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.827G>A MANE Select	ENSP00000233190.5:p.Arg276His
ENST00000233190.10:c.827G>A	ENSP00000233190.5:p.Arg276His
ENST00000423725.5:c.656G>A	ENSP00000397760.1:p.Arg219His
ENST00000432169.5:c.494G>A	ENSP00000409689.1:p.Arg165His
ENST00000440274.5:c.719G>A	ENSP00000409766.1:p.Arg240His
ENST00000449699.5:c.827G>A	ENSP00000399912.1:p.Arg276His
ENST00000455934.6:c.869G>A	ENSP00000392709.2:p.Arg290His
ENST00000457011.5:c.479G>A	ENSP00000400976.1:p.Arg160His
NM_001199981.1:c.719G>A	NP_001186910.1:p.Arg240His
NM_001199982.1:c.494G>A	NP_001186911.1:p.Arg165His
NM_001199983.1:c.656G>A	NP_001186912.1:p.Arg219His
NM_001199984.1:c.869G>A	NP_001186913.1:p.Arg290His
NM_005006.6:c.827G>A	NP_004997.4:p.Arg276His
XM_017004188.2:c.68G>A	XP_016859677.1:p.Arg23His
NM_001199981.2:c.719G>A	NP_001186910.1:p.Arg240His
NM_001199982.2:c.494G>A	NP_001186911.1:p.Arg165His
NM_001199983.2:c.656G>A	NP_001186912.1:p.Arg219His
NM_005006.7:c.827G>A MANE Select	NP_004997.4:p.Arg276His
NM_001199984.2:c.869G>A	NP_001186913.1:p.Arg290His