Canonical Allele Identifier: CA350057584

Gene: NDUFS1

Linked Data

• COSMIC: COSM418893
• MyVariant Identifiers: chr2:g.207009718A>C (hg19) ; chr2:g.206144994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144994A>C , CM000664.2:g.206144994A>C	GRCh38
NC_000002.11:g.207009718A>C , CM000664.1:g.207009718A>C	GRCh37
NC_000002.10:g.206717963A>C	NCBI36
NG_009248.1:g.19470T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.770T>G MANE Select	ENSP00000233190.5:p.Val257Gly
ENST00000233190.10:c.770T>G	ENSP00000233190.5:p.Val257Gly
ENST00000423725.5:c.599T>G	ENSP00000397760.1:p.Val200Gly
ENST00000432169.5:c.437T>G	ENSP00000409689.1:p.Val146Gly
ENST00000440274.5:c.662T>G	ENSP00000409766.1:p.Val221Gly
ENST00000449699.5:c.770T>G	ENSP00000399912.1:p.Val257Gly
ENST00000455934.6:c.812T>G	ENSP00000392709.2:p.Val271Gly
ENST00000457011.5:c.422T>G	ENSP00000400976.1:p.Val141Gly
NM_001199981.1:c.662T>G	NP_001186910.1:p.Val221Gly
NM_001199982.1:c.437T>G	NP_001186911.1:p.Val146Gly
NM_001199983.1:c.599T>G	NP_001186912.1:p.Val200Gly
NM_001199984.1:c.812T>G	NP_001186913.1:p.Val271Gly
NM_005006.6:c.770T>G	NP_004997.4:p.Val257Gly
XM_017004188.2:c.11T>G	XP_016859677.1:p.Val4Gly
NM_001199981.2:c.662T>G	NP_001186910.1:p.Val221Gly
NM_001199982.2:c.437T>G	NP_001186911.1:p.Val146Gly
NM_001199983.2:c.599T>G	NP_001186912.1:p.Val200Gly
NM_005006.7:c.770T>G MANE Select	NP_004997.4:p.Val257Gly
NM_001199984.2:c.812T>G	NP_001186913.1:p.Val271Gly