Canonical Allele Identifier: CA2633583235
Gene: CNOT1 HGNC NCBI

Linked Data

gnomAD v4: 16-58533274-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58533274A>G , CM000678.2:g.58533274A>G GRCh38
NC_000016.9:g.58567178A>G , CM000678.1:g.58567178A>G GRCh37
NC_000016.8:g.57124679A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317147.10:c.5895+873T>C MANE Select ENSP00000320949.5:n.5895+873T>C
ENST00000317147.9:c.5895+873T>C ENSP00000320949.5:n.5895+873T>C
ENST00000567188.5:c.5880+873T>C ENSP00000456649.1:n.5880+873T>C
ENST00000568917.1:c.1035+873T>C ENSP00000454611.1:n.1035+873T>C
ENST00000569240.5:c.5880+873T>C ENSP00000455635.1:n.5880+873T>C
NM_001265612.1:c.5880+873T>C NP_001252541.1:n.5880+873T>C
NM_016284.4:c.5895+873T>C NP_057368.3:n.5895+873T>C
NR_049763.1:n.6213+873T>C
NM_016284.5:c.5895+873T>C MANE Select NP_057368.3:n.5895+873T>C
NM_001265612.2:c.5880+873T>C NP_001252541.1:n.5880+873T>C
NR_049763.2:n.6153+873T>C
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