Canonical Allele Identifier: CA1041598445

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1692089647
• gnomAD v3: 2-206144647-A-C
• gnomAD v4: 2-206144647-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144647A>C , CM000664.2:g.206144647A>C	GRCh38
NC_000002.11:g.207009371A>C , CM000664.1:g.207009371A>C	GRCh37
NC_000002.10:g.206717616A>C	NCBI36
NG_009248.1:g.19817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+245T>G MANE Select	ENSP00000233190.5:n.872+245T>G
ENST00000233190.10:c.872+245T>G	ENSP00000233190.5:n.872+245T>G
ENST00000423725.5:c.701+245T>G	ENSP00000397760.1:n.701+245T>G
ENST00000432169.5:c.539+245T>G	ENSP00000409689.1:n.539+245T>G
ENST00000440274.5:c.764+245T>G	ENSP00000409766.1:n.764+245T>G
ENST00000449699.5:c.872+245T>G	ENSP00000399912.1:n.872+245T>G
ENST00000455934.6:c.914+245T>G	ENSP00000392709.2:n.914+245T>G
ENST00000457011.5:c.524+245T>G	ENSP00000400976.1:n.524+245T>G
NM_001199981.1:c.764+245T>G	NP_001186910.1:n.764+245T>G
NM_001199982.1:c.539+245T>G	NP_001186911.1:n.539+245T>G
NM_001199983.1:c.701+245T>G	NP_001186912.1:n.701+245T>G
NM_001199984.1:c.914+245T>G	NP_001186913.1:n.914+245T>G
NM_005006.6:c.872+245T>G	NP_004997.4:n.872+245T>G
XM_017004188.2:c.113+245T>G	XP_016859677.1:n.113+245T>G
NM_001199981.2:c.764+245T>G	NP_001186910.1:n.764+245T>G
NM_001199982.2:c.539+245T>G	NP_001186911.1:n.539+245T>G
NM_001199983.2:c.701+245T>G	NP_001186912.1:n.701+245T>G
NM_005006.7:c.872+245T>G MANE Select	NP_004997.4:n.872+245T>G
NM_001199984.2:c.914+245T>G	NP_001186913.1:n.914+245T>G