Canonical Allele Identifier: CA153859

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 129695
• ClinVar RCV Id: RCV000117709 ; RCV000301574 ; RCV000358690 ; RCV000676271 ; RCV001778737
• dbSNP Id: rs1801318
• ExAC: 2:207006676 T / C
• gnomAD v2: 2-207006676-T-C
• gnomAD v3: 2-206141952-T-C
• gnomAD v4: 2-206141952-T-C
• MyVariant Identifiers: chr2:g.207006676T>C (hg19) ; chr2:g.206141952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206141952T>C , CM000664.2:g.206141952T>C	GRCh38
NC_000002.11:g.207006676T>C , CM000664.1:g.207006676T>C	GRCh37
NC_000002.10:g.206714921T>C	NCBI36
NG_009248.1:g.22512A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233190.11:c.1251A>G MANE Select	ENSP00000233190.5:p.Arg417=
ENST00000233190.10:c.1251A>G	ENSP00000233190.5:p.Arg417=
ENST00000423725.5:c.1080A>G	ENSP00000397760.1:p.Arg360=
ENST00000432169.5:c.918A>G	ENSP00000409689.1:p.Arg306=
ENST00000440274.5:c.1143A>G	ENSP00000409766.1:p.Arg381=
ENST00000449699.5:c.1251A>G	ENSP00000399912.1:p.Arg417=
ENST00000455934.6:c.1293A>G	ENSP00000392709.2:p.Arg431=
ENST00000457011.5:c.903A>G	ENSP00000400976.1:p.Arg301=
NM_001199981.1:c.1143A>G	NP_001186910.1:p.Arg381=
NM_001199982.1:c.918A>G	NP_001186911.1:p.Arg306=
NM_001199983.1:c.1080A>G	NP_001186912.1:p.Arg360=
NM_001199984.1:c.1293A>G	NP_001186913.1:p.Arg431=
NM_005006.6:c.1251A>G	NP_004997.4:p.Arg417=
XM_017004188.2:c.492A>G	XP_016859677.1:p.Arg164=
NM_001199981.2:c.1143A>G	NP_001186910.1:p.Arg381=
NM_001199982.2:c.918A>G	NP_001186911.1:p.Arg306=
NM_001199983.2:c.1080A>G	NP_001186912.1:p.Arg360=
NM_005006.7:c.1251A>G MANE Select	NP_004997.4:p.Arg417=
NM_001199984.2:c.1293A>G	NP_001186913.1:p.Arg431=