Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2C9*2 430C>T
Arg144Cys
NM_000771​.3:c.430C>T NP_000762​.2:p.Arg144Cys rs1799853
CYP2C9*3 1075A>C
Ile359Leu
NM_000771​.3:c.1075A>C NP_000762​.2:p.Ile359Leu rs1057910
CYP2C9*5 1080C>G
Asp360Glu
NM_000771​.3:c.1080C>G NP_000762​.2:p.Asp360Glu rs28371686
CYP2C9*6 817delA
Lys273Argfs
NM_000771​.3:c.818del NP_000762​.2:p.Lys273Argfs rs9332131
CYP2C9*8 449G>A
Arg150His
NM_000771​.3:c.449G>A NP_000762​.2:p.Arg150His rs7900194
CYP2C9*11 1003C>T
Arg335Trp
NM_000771​.3:c.1003C>T NP_000762​.2:p.Arg335Trp rs28371685

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS): http://www​.hgvs.org/content/guidelines

Nomenclature for Cytochrome P450 enzymes is available from the Pharmacogene Variation Consortium (PharmVar) https://www​.pharmvar.org/.

From: Phenytoin Therapy and HLA-B*15:02 and CYP2C9 Genotype

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Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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