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 818delA
Lys273Argfs		 NM_000771​.3:c.817delA 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>TNP_000762.2:p.Arg335Trp rs28371685

Note: the normal “wild-type” allele is CYP2C9*1 and is reported when no variant is detected.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (13).

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS).

Nomenclature for cytochrome P450 enzymes is available from Pharmacogene Variation (PharmVar) Consortium.

From: Flurbiprofen Therapy and CYP2C9 Genotype

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

All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.