Canonical Allele Identifier: CA2070356

Gene: NDUFS1

Linked Data

• ClinVar Variation Id: 894805
• ClinVar RCV Id: RCV001136554 ; RCV001136553 ; RCV002556899 ; RCV002556898
• dbSNP Id: rs773111037
• ExAC: 2:206992657 A / G
• gnomAD v2: 2-206992657-A-G
• gnomAD v3: 2-206127933-A-G
• gnomAD v4: 2-206127933-A-G
• COSMIC: COSM1581294 ; COSM6197646
• MyVariant Identifiers: chr2:g.206992657A>G (hg19) ; chr2:g.206127933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127933A>G , CM000664.2:g.206127933A>G	GRCh38
NC_000002.11:g.206992657A>G , CM000664.1:g.206992657A>G	GRCh37
NC_000002.10:g.206700902A>G	NCBI36
NG_009248.1:g.36531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1748T>C MANE Select	ENSP00000233190.5:p.Ile583Thr
ENST00000233190.10:c.1748T>C	ENSP00000233190.5:p.Ile583Thr
ENST00000423725.5:c.1577T>C	ENSP00000397760.1:p.Ile526Thr
ENST00000432169.5:c.1415T>C	ENSP00000409689.1:p.Ile472Thr
ENST00000440274.5:c.1640T>C	ENSP00000409766.1:p.Ile547Thr
ENST00000449699.5:c.1748T>C	ENSP00000399912.1:p.Ile583Thr
ENST00000455934.6:c.1790T>C	ENSP00000392709.2:p.Ile597Thr
ENST00000457011.5:c.1400T>C	ENSP00000400976.1:p.Ile467Thr
ENST00000498520.1:n.220T>C
NM_001199981.1:c.1640T>C	NP_001186910.1:p.Ile547Thr
NM_001199982.1:c.1415T>C	NP_001186911.1:p.Ile472Thr
NM_001199983.1:c.1577T>C	NP_001186912.1:p.Ile526Thr
NM_001199984.1:c.1790T>C	NP_001186913.1:p.Ile597Thr
NM_005006.6:c.1748T>C	NP_004997.4:p.Ile583Thr
XM_017004188.2:c.989T>C	XP_016859677.1:p.Ile330Thr
NM_001199981.2:c.1640T>C	NP_001186910.1:p.Ile547Thr
NM_001199982.2:c.1415T>C	NP_001186911.1:p.Ile472Thr
NM_001199983.2:c.1577T>C	NP_001186912.1:p.Ile526Thr
NM_005006.7:c.1748T>C MANE Select	NP_004997.4:p.Ile583Thr
NM_001199984.2:c.1790T>C	NP_001186913.1:p.Ile597Thr