Canonical Allele Identifier: CA319780

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 214774
• ClinVar RCV Id: RCV000195446 ; RCV001138793 ; RCV001138792 ; RCV002515413
• dbSNP Id: rs201806038
• ExAC: 2:206994920 C / T
• gnomAD v2: 2-206994920-C-T
• gnomAD v3: 2-206130196-C-T
• gnomAD v4: 2-206130196-C-T
• MyVariant Identifiers: chr2:g.206994920C>T (hg19) ; chr2:g.206130196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206130196C>T , CM000664.2:g.206130196C>T	GRCh38
NC_000002.11:g.206994920C>T , CM000664.1:g.206994920C>T	GRCh37
NC_000002.10:g.206703165C>T	NCBI36
NG_009248.1:g.34268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1600G>A MANE Select	ENSP00000233190.5:p.Val534Met
ENST00000233190.10:c.1600G>A	ENSP00000233190.5:p.Val534Met
ENST00000423725.5:c.1429G>A	ENSP00000397760.1:p.Val477Met
ENST00000432169.5:c.1267G>A	ENSP00000409689.1:p.Val423Met
ENST00000440274.5:c.1492G>A	ENSP00000409766.1:p.Val498Met
ENST00000449699.5:c.1600G>A	ENSP00000399912.1:p.Val534Met
ENST00000455934.6:c.1642G>A	ENSP00000392709.2:p.Val548Met
ENST00000457011.5:c.1252G>A	ENSP00000400976.1:p.Val418Met
ENST00000498520.1:n.72G>A
NM_001199981.1:c.1492G>A	NP_001186910.1:p.Val498Met
NM_001199982.1:c.1267G>A	NP_001186911.1:p.Val423Met
NM_001199983.1:c.1429G>A	NP_001186912.1:p.Val477Met
NM_001199984.1:c.1642G>A	NP_001186913.1:p.Val548Met
NM_005006.6:c.1600G>A	NP_004997.4:p.Val534Met
XM_017004188.2:c.841G>A	XP_016859677.1:p.Val281Met
NM_001199981.2:c.1492G>A	NP_001186910.1:p.Val498Met
NM_001199982.2:c.1267G>A	NP_001186911.1:p.Val423Met
NM_001199983.2:c.1429G>A	NP_001186912.1:p.Val477Met
NM_005006.7:c.1600G>A MANE Select	NP_004997.4:p.Val534Met
NM_001199984.2:c.1642G>A	NP_001186913.1:p.Val548Met