Canonical Allele Identifier: CA63665068

Gene: NDUFS1

Linked Data

• dbSNP Id: rs908868752
• gnomAD v4: 2-206144967-C-G
• COSMIC: COSM5014275
• MyVariant Identifiers: chr2:g.207009691C>G (hg19) ; chr2:g.206144967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144967C>G , CM000664.2:g.206144967C>G	GRCh38
NC_000002.11:g.207009691C>G , CM000664.1:g.207009691C>G	GRCh37
NC_000002.10:g.206717936C>G	NCBI36
NG_009248.1:g.19497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.797G>C MANE Select	ENSP00000233190.5:p.Arg266Thr
ENST00000233190.10:c.797G>C	ENSP00000233190.5:p.Arg266Thr
ENST00000423725.5:c.626G>C	ENSP00000397760.1:p.Arg209Thr
ENST00000432169.5:c.464G>C	ENSP00000409689.1:p.Arg155Thr
ENST00000440274.5:c.689G>C	ENSP00000409766.1:p.Arg230Thr
ENST00000449699.5:c.797G>C	ENSP00000399912.1:p.Arg266Thr
ENST00000455934.6:c.839G>C	ENSP00000392709.2:p.Arg280Thr
ENST00000457011.5:c.449G>C	ENSP00000400976.1:p.Arg150Thr
NM_001199981.1:c.689G>C	NP_001186910.1:p.Arg230Thr
NM_001199982.1:c.464G>C	NP_001186911.1:p.Arg155Thr
NM_001199983.1:c.626G>C	NP_001186912.1:p.Arg209Thr
NM_001199984.1:c.839G>C	NP_001186913.1:p.Arg280Thr
NM_005006.6:c.797G>C	NP_004997.4:p.Arg266Thr
XM_017004188.2:c.38G>C	XP_016859677.1:p.Arg13Thr
NM_001199981.2:c.689G>C	NP_001186910.1:p.Arg230Thr
NM_001199982.2:c.464G>C	NP_001186911.1:p.Arg155Thr
NM_001199983.2:c.626G>C	NP_001186912.1:p.Arg209Thr
NM_005006.7:c.797G>C MANE Select	NP_004997.4:p.Arg266Thr
NM_001199984.2:c.839G>C	NP_001186913.1:p.Arg280Thr