Canonical Allele Identifier: CA2070650

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 1032963
• ClinVar RCV Id: RCV001335223 ; RCV002546721 ; RCV003325564
• dbSNP Id: rs142941808
• ExAC: 2:207009662 G / A
• gnomAD v2: 2-207009662-G-A
• gnomAD v3: 2-206144938-G-A
• gnomAD v4: 2-206144938-G-A
• MyVariant Identifiers: chr2:g.207009662G>A (hg19) ; chr2:g.206144938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144938G>A , CM000664.2:g.206144938G>A	GRCh38
NC_000002.11:g.207009662G>A , CM000664.1:g.207009662G>A	GRCh37
NC_000002.10:g.206717907G>A	NCBI36
NG_009248.1:g.19526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.826C>T MANE Select	ENSP00000233190.5:p.Arg276Cys
ENST00000233190.10:c.826C>T	ENSP00000233190.5:p.Arg276Cys
ENST00000423725.5:c.655C>T	ENSP00000397760.1:p.Arg219Cys
ENST00000432169.5:c.493C>T	ENSP00000409689.1:p.Arg165Cys
ENST00000440274.5:c.718C>T	ENSP00000409766.1:p.Arg240Cys
ENST00000449699.5:c.826C>T	ENSP00000399912.1:p.Arg276Cys
ENST00000455934.6:c.868C>T	ENSP00000392709.2:p.Arg290Cys
ENST00000457011.5:c.478C>T	ENSP00000400976.1:p.Arg160Cys
NM_001199981.1:c.718C>T	NP_001186910.1:p.Arg240Cys
NM_001199982.1:c.493C>T	NP_001186911.1:p.Arg165Cys
NM_001199983.1:c.655C>T	NP_001186912.1:p.Arg219Cys
NM_001199984.1:c.868C>T	NP_001186913.1:p.Arg290Cys
NM_005006.6:c.826C>T	NP_004997.4:p.Arg276Cys
XM_017004188.2:c.67C>T	XP_016859677.1:p.Arg23Cys
NM_001199981.2:c.718C>T	NP_001186910.1:p.Arg240Cys
NM_001199982.2:c.493C>T	NP_001186911.1:p.Arg165Cys
NM_001199983.2:c.655C>T	NP_001186912.1:p.Arg219Cys
NM_005006.7:c.826C>T MANE Select	NP_004997.4:p.Arg276Cys
NM_001199984.2:c.868C>T	NP_001186913.1:p.Arg290Cys