Canonical Allele Identifier: CA350043252

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 1324785
• ClinVar RCV Id: RCV001782505
• dbSNP Id: rs2105945363
• MyVariant Identifiers: chr2:g.206992595G>A (hg19) ; chr2:g.206127871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127871G>A , CM000664.2:g.206127871G>A	GRCh38
NC_000002.11:g.206992595G>A , CM000664.1:g.206992595G>A	GRCh37
NC_000002.10:g.206700840G>A	NCBI36
NG_009248.1:g.36593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1810C>T MANE Select	ENSP00000233190.5:p.Gln604Ter
ENST00000233190.10:c.1810C>T	ENSP00000233190.5:p.Gln604Ter
ENST00000423725.5:c.1639C>T	ENSP00000397760.1:p.Gln547Ter
ENST00000432169.5:c.1477C>T	ENSP00000409689.1:p.Gln493Ter
ENST00000440274.5:c.1702C>T	ENSP00000409766.1:p.Gln568Ter
ENST00000449699.5:c.1810C>T	ENSP00000399912.1:p.Gln604Ter
ENST00000455934.6:c.1852C>T	ENSP00000392709.2:p.Gln618Ter
ENST00000457011.5:c.1462C>T	ENSP00000400976.1:p.Gln488Ter
ENST00000498520.1:n.282C>T
NM_001199981.1:c.1702C>T	NP_001186910.1:p.Gln568Ter
NM_001199982.1:c.1477C>T	NP_001186911.1:p.Gln493Ter
NM_001199983.1:c.1639C>T	NP_001186912.1:p.Gln547Ter
NM_001199984.1:c.1852C>T	NP_001186913.1:p.Gln618Ter
NM_005006.6:c.1810C>T	NP_004997.4:p.Gln604Ter
XM_017004188.2:c.1051C>T	XP_016859677.1:p.Gln351Ter
NM_001199981.2:c.1702C>T	NP_001186910.1:p.Gln568Ter
NM_001199982.2:c.1477C>T	NP_001186911.1:p.Gln493Ter
NM_001199983.2:c.1639C>T	NP_001186912.1:p.Gln547Ter
NM_005006.7:c.1810C>T MANE Select	NP_004997.4:p.Gln604Ter
NM_001199984.2:c.1852C>T	NP_001186913.1:p.Gln618Ter