Canonical Allele Identifier: CA350043297

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127876-C-G
• COSMIC: COSM1644150
• MyVariant Identifiers: chr2:g.206992600C>G (hg19) ; chr2:g.206127876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127876C>G , CM000664.2:g.206127876C>G	GRCh38
NC_000002.11:g.206992600C>G , CM000664.1:g.206992600C>G	GRCh37
NC_000002.10:g.206700845C>G	NCBI36
NG_009248.1:g.36588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1805G>C MANE Select	ENSP00000233190.5:p.Arg602Thr
ENST00000233190.10:c.1805G>C	ENSP00000233190.5:p.Arg602Thr
ENST00000423725.5:c.1634G>C	ENSP00000397760.1:p.Arg545Thr
ENST00000432169.5:c.1472G>C	ENSP00000409689.1:p.Arg491Thr
ENST00000440274.5:c.1697G>C	ENSP00000409766.1:p.Arg566Thr
ENST00000449699.5:c.1805G>C	ENSP00000399912.1:p.Arg602Thr
ENST00000455934.6:c.1847G>C	ENSP00000392709.2:p.Arg616Thr
ENST00000457011.5:c.1457G>C	ENSP00000400976.1:p.Arg486Thr
ENST00000498520.1:n.277G>C
NM_001199981.1:c.1697G>C	NP_001186910.1:p.Arg566Thr
NM_001199982.1:c.1472G>C	NP_001186911.1:p.Arg491Thr
NM_001199983.1:c.1634G>C	NP_001186912.1:p.Arg545Thr
NM_001199984.1:c.1847G>C	NP_001186913.1:p.Arg616Thr
NM_005006.6:c.1805G>C	NP_004997.4:p.Arg602Thr
XM_017004188.2:c.1046G>C	XP_016859677.1:p.Arg349Thr
NM_001199981.2:c.1697G>C	NP_001186910.1:p.Arg566Thr
NM_001199982.2:c.1472G>C	NP_001186911.1:p.Arg491Thr
NM_001199983.2:c.1634G>C	NP_001186912.1:p.Arg545Thr
NM_005006.7:c.1805G>C MANE Select	NP_004997.4:p.Arg602Thr
NM_001199984.2:c.1847G>C	NP_001186913.1:p.Arg616Thr