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Table 2 Comparison of CSN and current nomenclature for exonic base substitutions

From: CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

CSN

Current nomenclaturea

 

Nucleotide

Amino acid

c.1040A>G_p.Gln347Arg

c.1040A>G

p.Gln347Arg

c.1911T>C_p.=

c.1911T>C

p.Gly637Gly

c.3264T>C_p.=

c.3264T>C

p.Pro1088Pro

c.3515C>T_p.Ser1172Leu

c.3515C>T

p.Ser1172Leu

c.3516G>A_p.=

c.3516G>A

p.Ser1172Ser

c.5682C>G_p.Tyr1894X

c.5682C>G

p.Tyr1894Ter

c.5855T>A_p.Leu1952X

c.5855T>A

p.Leu1952Ter

c.6131G>T_p.Gly2044Val

c.6131G>T

p.Gly2044Val

c.6675A>G_p.=

c.6675A>G

p.Thr2225Thr

c.7558C>T_p.Arg2520X

c.7558C>T

p.Arg2520Ter

c.8182G>A_p.Val2728Ile

c.8182G>A

p.Val2728Ile

c.9976A>T_p.Lys3326X

c.9976A>T

p.Lys3326Ter

  1. CSN allows easy visual discrimination between the different classes of exonic base substitutions with ‘=’ denoting a synonymous variant, ‘X’ denoting a stop-gain variant and the three letter code of the new amino acid denoting a nonsynonymous variant. CSN includes both the nucleotide and amino acid level descriptions to give a single, unique identifier for each variant.
  2. aThe current nomenclature given is one of several different notation systems currently in use
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Genome Medicine

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